Medical genetics - Knowledge (XXG)

782:, or in some countries, an MB ChB or MB BS degree. These qualifications ensure that trainees have the foundational medical knowledge required to specialize in Medical Genetics. The optimal training program involves a total of five years: one year of general medical training (the "common trunk", often covering fields such as general practice, pediatrics, obstetrics and gynecology, neurology, psychiatry, and internal medicine) followed by four years of specialized training in Medical Genetics. This specialized training should include at least two years of clinical patient care and at least six months in genetic laboratory diagnostics. Trainees' progress is evaluated through a structured program that begins with observation and progresses to independent practice under supervision, culminating in the ability to manage complex cases independently. 1444:

condition could result from lack of compound "D", if it is critical for some cellular function, or from toxicity due to excess "A", "B", and/or "C", or from toxicity due to the excess of "E" which is normally only present in small amounts and only accumulates when "C" is in excess. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound "D" and dietary restriction of compounds "A", "B", and/or "C" or by treatment with a medication that promoted disposal of excess "A", "B", "C" or "E". Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme "Z" or cofactor therapy to increase the efficacy of any residual "Z" activity.

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specialize in pediatric genetics which focuses on developmental abnormalities present in newborns, infants or children. The major goal of pediatric counseling is attempting to explain the genetic basis behind the child's developmental concerns in a compassionate and articulated manner that allows the potentially distressed or frustrated parents to easily understand the information. As well, genetic counselors normally take a family pedigree, which summarizes the medical history of the patient's family. This then aids the clinical geneticist in the differential diagnosis process and help determine which further steps should be taken to help the patient.

1151: 61: 447: 796:, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG). In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 12 months of training in an 230: 2088:, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied, although the magnitude of this problem in genetic association studies is subject to debate. Various methods have been developed to detect and account for population substructure, but these methods can be difficult to apply in practice. 2000: 1578: 5158: 4734: 344: 2092:

case for other populations. Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.

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that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background. If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.

4764: 4774: 1636: 1417:. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no "cure" for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly 1468:. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders. 4754: 4744: 1476:

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted.

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Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain

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Baltimore, David; Berg, Paul; Botchan, Dana; Charo, R. Alta; Church, George; Corn, Jacob E.; Daley, George Q.; Doudna, Jennifer A.; Fenner, Marsha; Greely, Henry T.; Jinek, Martin; Martin, G. Steven; Penhoet, Edward; Puck, Jennifer; Sternberg, Samuel H.; Weissman, Jonathan S.; Yamamoto, Keith R. (19

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Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare. Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among

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Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay or intellectual disability, birth defects, dysmorphic features, or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or

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are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder. When working alongside geneticists, genetic counselors normally

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The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests

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hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases. Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.

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movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the

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Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the

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One of the critical aspects of the management of patients with metabolic disorders is the appropriate nutritional intervention (either restricting the compound that cannot be metabolized, or supplementing compounds that are deficient as the result of an enzyme deficiency). The metabolic nurse and

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Any researcher who studies the genetic basis of human disease or uses model organisms to study disease mechanisms could be considered a Research Geneticist. Many of the clinical career paths also include basic or translational research, and thus individuals in the field of medical genetics often

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Compound "A" is metabolized to "B" by enzyme "X", compound "B" is metabolized to "C" by enzyme "Y", and compound "C" is metabolized to "D" by enzyme "Z". If enzyme "Z" is missing, compound "D" will be missing, while compounds "A", "B", and "C" will build up. The pathogenesis of this particular

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to small oligonucleotides) that represent unique regions of the genome. This method is particularly sensitive for detection of genomic gains or losses across the genome but does not detect balanced translocations or distinguish the location of duplicated genetic material (for example, a tandem

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Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a "snapshot" of an individual's health status. The unique status of genetic information and inherited disease has a number of

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There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US

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College (4 yrs) → Medical school (4 yrs) → Primary residency (1 yr) → Residency in Clinical genetics (2 yrs). Some Clinical geneticists also obtain a PhD degree (4-7 yrs). A new residency track offers a 4 yr primary residency in Clinical genetics immediately after finishing Medical school.

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D. Bonneau, S. Marlin, D. Sanlaville, J.-M. Dupont, H. Sobol, M. Gonzales, M. Le Merrer, P. Malzac, F. Razavi, S. Manouvrier, S. Odent, D. Stoppa-Lyonnet, Les tests génétiques à l’heure de la deuxième révision des lois de bioéthique, Pathologie Biologie, Volume 58, Issue 5, 2010, Pages

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Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes. According to the

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The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of

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The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

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and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism,

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by using CRISPR and related techniques on condition that the embryos were destroyed within seven days. In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.

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Multidisciplinary specialty clinics that include a clinical geneticist or genetic counselor (cancer genetics, cardiovascular genetics, craniofacial or cleft lip/palate, hearing loss clinics, muscular dystrophy/neurodegenerative disorder

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Chromosome painting is a technique that uses fluorescent probes specific for each chromosome to differentially label each chromosome. This technique is more often used in cancer cytogenetics, where complex chromosome rearrangements can

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Liang, Puping; Xu, Yanwen; Zhang, Xiya; Ding, Chenhui; Huang, Rui; Zhang, Zhen; Lv, Jie; Xie, Xiaowei; Chen, Yuxi; Li, Yujing; Sun, Ying; Bai, Yaofu; Songyang, Zhou; Ma, Wenbin; Zhou, Canquan; Huang, Junjiu (18 April 2015).

1211:(FISH) involves fluorescent labeling of probes that bind to specific DNA sequences, used for identifying aneuploidy, genomic deletions or duplications, characterizing chromosomal translocations and determining the origin of 1547:

prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

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However, the generality of the model has not yet been established and, in some cases, is in doubt. Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.

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Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, Henderson B, Hirschhorn JN, Altshuler D (2004).

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genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of

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Wacholder S, Rothman N, Caporaso N (2002). "Counterpoint: bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorphisms and cancer".

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The acylcarnitine combination profile detects compounds such as organic acids and fatty acids conjugated to carnitine. The test is used for detection of disorders involving fatty acid metabolism, including

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In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the

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groups distinguished by ancestry. However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

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Medical genetics is recognized as a distinct medical specialty. In the U.S., medical genetics has its own approved board (the American Board of Medical Genetics) and clinical specialty college (the

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Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN (2003). "Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease".

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would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

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Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling.

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other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

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is a newer molecular technique that involves hybridization of an individual DNA sample to a glass slide or microarray chip containing molecular probes (ranging from large ~200kb

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A clinical geneticist is typically a physician who evaluates patients in the office or as a hospital consultation. This process includes a medical history, family history (

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specializes in communication of genetic information to patients and families. Genetic counselors often work closely with Clinical geneticists or other physicians (such as

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laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include

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are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include

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Urine organic acid analysis can be either performed using quantitative or qualitative methods, but in either case the test is used to detect the excretion of abnormal

844: 1314:. These compounds normally accumulate during exercise or ischemia, but are also elevated in patients with disorders of pyruvate metabolism or mitochondrial disorders. 789:. This certificate serves as a benchmark for high standards in the specialty across Europe and is increasingly recognized by various national regulatory authorities. 514:. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in 1260:

to measure the amount of amino acid in the sample (either urine, plasma/serum, or CSF). Measurement of amino acids in plasma or serum is used in the evaluation of

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are analyzed. Therefore, although these tests are highly specific and sensitive, they do not routinely identify all of the mutations that could cause disease.

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Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH (2004). "Multiple rare alleles contribute to low plasma levels of HDL cholesterol".

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is used to directly analyze the genomic DNA sequence of a particular gene. In general, only the parts of the gene that code for the expressed protein (

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Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O'Brien SJ, Altshuler D, Daly MJ, Reich D (2004).

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In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

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Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a

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College (4 yrs) → Graduate school (PhD, usually 4–7 years) and/or Medical school (4 years) → Post-doctoral research training (usually 3+ years)

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Referral to an out-patient genetics clinic (pediatric, adult, or combined) or an in-hospital consultation, most often for diagnostic evaluation.

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typically work in the diagnostic laboratory, analyzing and interpreting specialized genetic tests that look for disease-causing changes (

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of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as

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One area in which population categories can be important considerations in genetics research is in controlling for confounding between

5016: 4810: 4639: 3981: 1941: 1933: 1208: 771:. This organization aims to harmonize and raise the standards of medical specialist training across Europe. The UEMS has established 3345:

Thomas DC, Witte JS (2002). "Point: population stratification: a problem for case-control studies of candidate-gene associations?".

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A ---> B ---> C ---> D AAAA ---> BBBBBB ---> CCCCCCCCCC ---> (no D) X Y Z X Y | (no or insufficient Z) EEEEE

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and detected using radiolabeled probes. This test was routinely used to detect deletions or duplications in conditions such as

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Enzyme testing is performed for a wide range of metabolic disorders to confirm a diagnosis suspected based on screening tests.

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encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical

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involves special stains that generate light and dark bands, allowing identification of each chromosome under a microscope.

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disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

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practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the

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Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

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Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including

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Smith MW, Patterson N, Lautenberger JA, Truelove AL, McDonald GJ, Waliszewska A, Kessing BD, et al. (2004).

1957:, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics. 1461: 1269: 1167: 813: 681: 487: 361: 3097:

Risch N, Burchard E, Ziv E, Tang H, "Categorization of humans in biomedical research: genes, race and disease",

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Goldstein DB, Chikhi L (2002). "Human migrations and population structure: what we know and why it matters".

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using CRISPR. In February 2016, British scientists were given permission by regulators to genetically modify

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Lanphier, Edward; Urnov, Fyodor; Haecker, Sarah Ehlen; Werner, Michael; Smolenski, Joanna (26 March 2015).

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Cooper RS, "Genetic factors in ethnic disparities in health", in Anderson NB, Bulatao RA, Cohen B, eds.,

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conditions. The medical genetics community is increasingly involved with individuals who have undertaken

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The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the

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Final certification involves a comprehensive assessment, which may include national examinations or the

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On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of

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Collins FS, Green ED, Guttmacher AE, Guyer MS, US National Human Genome Research Institute (2003).

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The Politics of Life Itself : Biomedicine, Power, and Subjectivity in the Twenty-First Century

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Kittles RA, Weiss KM (2003). "Race, ancestry, and genes: implications for defining disease risk".

1936:. The Society first began annual meetings that year (1948) and its international counterpart, the 1256:

Quantitative amino acid analysis is typically performed using the ninhydrin reaction, followed by

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Technicians in the diagnostic or research labs handle samples and run the assays at the bench.

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Weiss KM, Terwilliger JD (2000). "How many diseases does it take to map a gene with SNPs?".

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Although genetics has its roots back in the 19th century with the work of the Bohemian monk

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Cardon LR, Palmer LJ (2003). "Population stratification and spurious allelic association".

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College (4 yrs) → Graduate school (PhD, usually 4–7 years) and/or Medical school (4 years)

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College (4 yrs) → Graduate school (PhD, usually 4–7 years) and/or Medical school (4 years)

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College (4 yrs) → Graduate school (PhD, usually 4–7 years) and/or Medical school (4 years)

1252:(PKU). Patients suspected to have a metabolic condition might undergo the following tests: 4982: 4767: 4712: 4573: 4558: 4541: 4481: 4476: 4420: 4398: 4095: 4041: 4021: 3109: 2973: 2801: 2704:"The allelic architecture of human disease genes: common disease-common variant...or not?" 2032: 1528: 1502: 1457: 1363: 1273: 1249: 1212: 983: 979: 963: 903: 740: 728: 3459:

Hoggart CJ, Parra EJ, Shriver MD, Bonilla C, Kittles RA, Clayton DG, McKeigue PM (2003).

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Cardon LR, Abecasis GR (2003). "Using haplotype blocks to map human complex trait loci".

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to inhibit the production of succinylacetone which causes liver toxicity, and the use of

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analysis is used to diagnose certain genetic disorders that are caused by disruptions of

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Referral for counseling in a prenatal genetics clinic to discuss risks to the pregnancy (

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Couples at risk of having a child with a genetic disorder preconception or while pregnant

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is an early technique basic on detection of fragments of DNA separated by size through

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techniques. Southern blotting is still useful in the diagnosis of disorders caused by

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activity. Some Clinical Geneticists are also board certified in Biochemical Genetics.

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to boost the activity of the residual cystathione synthase enzyme, administration of

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Individuals seeking acceptance into clinical genetics training programs must hold an

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typically work in the diagnostic laboratory, analyzing and interpreting specialized

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Examples of genetic syndromes that are commonly seen in the genetics clinic include

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is used to replace the missing enzyme. Current research is actively seeking to use

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in a way that can be inherited. In April 2015 and April 2016, Chinese researchers

3102: 17: 5042: 4546: 4491: 4388: 4243: 4218: 4036: 3306:"The effects of human population structure on large genetic association studies" 2153: 1965: 1951:). The college holds an annual scientific meeting, publishes a monthly journal, 1896: 1765: 1761: 1635: 1498: 1490: 1414: 1135: 919: 875: 847:

contributing to authorship of the curriculum via their parent organization, the

547: 531: 4634: 2384:"A prudent path forward for genomic engineering and germline gene modification" 1940:, has met every 5 years since its inception in 1956. The Society publishes the 5047: 4916: 4896: 4871: 4519: 4486: 4258: 4208: 4193: 4188: 4181: 4166: 4156: 3699:"A high-density admixture map for disease gene discovery in African Americans" 3256:

Critical perspectives on racial and ethnic differences in health in later life

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Risch N (2000). "Searching for the genetic determinants in a new millennium".

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Pyruvate and lactate are byproducts of normal metabolism, particularly during

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There exists some overlap between medical genetic diagnostic laboratories and

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is an end product of amino acid metabolism and is converted in the liver to

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Autosomal dominant and autosomal recessive inheritance, the two most common

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Medical genetics was a late developer, emerging largely after the close of

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are now becoming widely used. Examples of chromosome abnormalities include

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tests. Some Clinical Geneticists are also board certified in Cytogenetics.

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incorporates biochemical tests to screen for treatable conditions such as

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nutritionist play important roles in coordinating the dietary management.

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Reich DA, Lander ES (2001). "On the allelic spectrum of human disease".

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typically work in the diagnostic laboratory, analyzing and interpreting

1276:. Measurement of amino acids in urine can be useful in the diagnosis of 990:. Molecular tests are also used in the diagnosis of syndromes involving 950:

Molecular genetics involves the discovery of and laboratory testing for

4692: 4152: 4120: 4013: 3954: 3000:"Are rare variants responsible for susceptibility to complex diseases?" 1506: 1357: 1317: 786: 3953:

The Phenomizer – A tool for clinical diagnostics in medical genetics.

2743:

Smith DJ, Lusis AJ (2002). "The allelic structure of common disease".

4911: 4886: 3135: 1904: 1892: 1773: 1683: 1486: 879: 630: 507: 491: 117: 92: 3599:

Hoggart CJ, Shriver MD, Kittles RA, Clayton DG, McKeigue PM (2004).

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ramifications with regard to ethical, legal, and societal concerns.

1743:

College (4 yrs) → Nursing school or graduate training in nutrition.

431:

is a newer term for medical genetics and incorporates areas such as

3763: 3714: 3665: 3616: 3527: 3510: 3476: 3402:"Tests and estimates of allelic association in complex inheritance" 3322: 3305: 3182: 3112:) (electronically published July 1, 2002; accessed August 25, 2005) 3015: 2836: 862:(or biochemical) genetics involves the diagnosis and management of 2955: 2953: 2882: 2523:"CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes" 2494:"Chinese Scientists Edit Genes of Human Embryos, Raising Concerns" 2010: with: more details and additional citations. You can help by 1728:

College (4 yrs) → Graduate program in Genetic counseling (2 yrs).

1634: 1557:

Angiotensin receptor blockers in Marfan syndrome & Loeys-Dietz

1353: 1149: 1134:

and recommend appropriate testing. These tests might evaluate for

797: 404: 3948: 1489:

to restore activity of several enzymes affected by deficiency of

1321: 824: 4792: 3963: 4881: 4876: 2694: 2692: 2574:"Chinese Researchers Experiment with Making HIV-Proof Embryos" 1994: 1912: 1833: 1571: 1429:

or other new medications to treat specific genetic disorders.

1410: 1328:. Elevated ammonia can therefore be detected in patients with 951: 87: 82: 3650:"Methods for high-density admixture mapping of disease genes" 1587:

deal primarily with the United States and do not represent a

1356:) and small amounts of the flanking untranslated regions and 787:

European Certificate in Medical Genetics and Genomics (ECMGG)

3165:

Altmüller J, Palmer LJ, Fischer G, Scherb H, Wjst M (2001).

775:

to guide the education and training of medical geneticists.

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Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K (2002).

2327:"Scientists Seek Ban on Method of Editing the Human Genome" 1409:

Each cell of the body contains the hereditary information (

930:

to analyze chromosomes, new molecular technologies such as

866:

in which patients have enzymatic deficiencies that perturb

831:) and have successfully completed basic training in either 3942: 3258:, (Washington DC: National Academy Press, 2004), 267–309. 773:

European Training Requirements (ETR) for Medical Genetics

30:"Clinical genetics" redirects here. For the journal, see 1725:) and often convey the results of the recommended tests. 3304:

Marchini J, Cardon LR, Phillips MS, Donnelly P (2004).

3216:"A comprehensive review of genetic association studies" 2011: 1876:

College (4 yrs), may have higher degree (MS, 2+ years)

1596: 1164:

International System for Human Cytogenomic Nomenclature

768: 3947:

The National Human Genome Research Institute hosts an

1836:. Some examples of molecular diagnostic tests include 567:) that have enabled an unprecedented understanding of 3906:

Clinical Genetics in Britain: Origins and development

1178:, both the male (XY) and female (XX) versions of the 1098:

Specialty genetics clinics focusing on management of

769:

the Union Européenne des Médecins Spécialistes (UEMS)

2135: 5131: 5030: 4981: 4925: 4864: 4650: 4588: 4349: 4277: 4232: 4141: 4012: 3997: 3748:"Prospects for admixture mapping of complex traits" 1324:through a series of enzymatic reactions termed the 37:For a non-technical introduction to the topic, see 3601:"Design and analysis of admixture mapping studies" 1980:, for ongoing education, networking and advocacy. 1021:genetics concerns the diagnosis and management of 439:, and the rapidly emerging new medical specialty, 2136:"American Board of Medical Genetics and Genomics" 3550:Tian C, Gregersen PK, Seldin MF (October 2008). 1978:Australasian Association of Clinical Geneticists 1696:, and recommending appropriate diagnostic tests. 845:Australasian Association of Clinical Geneticists 415:In contrast, the study of typically non-medical 3909:. Wellcome Witnesses to Contemporary Medicine. 1230:duplication versus an insertional duplication). 3838:"A vision for the future of genomics research" 3103:http://genomebiology.com/2002/3/7/comment/2007 942:, and genomic deletion/duplication disorders. 395:that involves the diagnosis and management of 4804: 3975: 1585:The examples and perspective in this article 369: 8: 3911:History of Modern Biomedicine Research Group 2074:Population substructure in genetics research 958:. Examples of single gene disorders include 926:. While cytogenetics historically relied on 2175:. Royal Australasian College of Physicians. 4811: 4797: 4789: 4264:Reproductive endocrinology and infertility 4009: 3982: 3968: 3960: 1477:Examples include the use of high doses of 882:. Examples of metabolic disorders include 376: 362: 43: 4605:Bachelor of Medicine, Bachelor of Surgery 3861: 3812: 3771: 3722: 3673: 3624: 3575: 3526: 3484: 3435: 3425: 3321: 3231: 3190: 3023: 2925: 2756: 2719: 2548: 2468: 2417: 2301: 2203: 1623:Learn how and when to remove this message 1392:but is being replaced by high-resolution 587:. Branches of clinical genetics include: 2599:"Scientists get 'gene editing' go-ahead" 2274:Cambridge Quarterly of Healthcare Ethics 1970:Royal Australasian College of Physicians 1938:International Congress of Human Genetics 1650: 1332:, as well as other conditions involving 841:Royal Australasian College of Physicians 445: 27:Medicine focused on hereditary disorders 5144:List of genetics research organizations 2127: 1394:array comparative genomic hybridization 1223:Array comparative genomic hybridization 932:array comparative genomic hybridization 51: 1883:Ethical, legal and social implications 2974:10.1146/annurev.genom.4.070802.110356 2802:10.1146/annurev.genom.3.022502.103200 1974:Human Genetics Society of Australasia 1859:participate in some form of research. 1170:. It shows dark and white regions on 849:Human Genetics Society of Australasia 7: 4743: 4504:Physical medicine and rehabilitation 2597:Gallagher, James (1 February 2016). 1976:and its special interest group, the 1949:American College of Medical Genetics 552:elective genetic and genomic testing 4753: 1972:, but professionally belong to the 1733:Metabolic nurse and/or nutritionist 1481:(vitamin B6) in some patients with 870:pathways involved in metabolism of 4640:Medical Scientist Training Program 1942:American Journal of Human Genetics 1934:American Society of Human Genetics 1646:American Board of Medical Genetics 1639:Geneticist working with a pedigree 1413:) wrapped up in structures called 1262:disorders of amino acid metabolism 1209:Fluorescence in situ hybridization 25: 1855:BS, MS, PhD, MBBS, MD, DO, MD-PhD 1819:BS, MS, PhD, MBBS, MD, DO, MD-PhD 1806:comparative genomic hybridization 1787:BS, MS, PhD, MBBS, MD, DO, MD-PhD 1751:BS, MS, PhD, MBBS, MD, DO, MD-PhD 1433:Management of metabolic disorders 5157: 5156: 4772: 4762: 4752: 4742: 4733: 4732: 3375:Cancer Epidemiol Biomarkers Prev 3347:Cancer Epidemiol Biomarkers Prev 3233:10.1097/00125817-200203000-00002 2572:Regalado, Antonio (2016-05-08). 2443:"Don't edit the human germ line" 2355:"A Powerful New Way to Edit DNA" 2353:Pollack, Andrew (3 March 2015). 2325:Wade, Nicholas (19 March 2015). 2052:Population groups in biomedicine 1998: 1576: 1541:Glycogen storage disease type II 1227:bacterial artificial chromosomes 399:. Medical genetics differs from 343: 342: 229: 228: 59: 4773: 2080:Population structure (genetics) 2046:Allelic architecture of disease 1182:(bottom right), as well as the 458:is any chromosome other than a 4630:Doctor of Osteopathic Medicine 4064:Oral and maxillofacial surgery 2492:Kolata, Gina (23 April 2015). 2239:. Princeton University Press. 1822:Individuals who specialize in 1790:Individuals who specialize in 1754:Individuals who specialize in 1240:circumstances. In the US, the 1062:(short fingers and toes), and 855:Metabolic/biochemical genetics 839:. Training is overseen by the 816:, or other medical specialty. 753:familial adenomatous polyposis 1: 3400:Morton NE, Collins A (1998). 3282:10.1016/s0140-6736(03)12520-2 2936:10.1016/s0168-9525(03)00022-2 2675:10.1016/s0168-9525(01)02410-6 2626:Amjad, Anneesa (2016-06-06). 2192:Journal of Genetic Counseling 2186:Resta, Robert (19 May 2006). 2059:common disease/common variant 954:mutations that underlie many 918:Cytogenetics is the study of 583:with particular attention to 518:are revealing etiologies for 5103:Missing heritability problem 4610:Bachelor of Medical Sciences 4377:Neurosurgical anesthesiology 1201:Chromosome analysis using a 1142:, or single gene disorders. 1599:, discuss the issue on the 1560:Bone marrow transplantation 1419:inborn errors of metabolism 1390:Duchenne muscular dystrophy 1158:of a human, with annotated 1140:inborn errors of metabolism 1100:inborn errors of metabolism 1000:Beckwith-Wiedemann syndrome 968:Duchenne muscular dystrophy 892:lysosomal storage disorders 864:inborn errors of metabolism 504:connective tissue disorders 32:Clinical Genetics (journal) 5204: 2154:"Training Options - ABMGG" 2107:Inborn error of metabolism 2077: 2049: 1525:lysosomal storage diseases 1518:Enzyme replacement therapy 1187: 1108:lysosomal storage diseases 940:chromosomal rearrangements 759:Training and qualification 717:chromosomal rearrangements 36: 29: 5152: 4826: 4728: 2541:10.1007/s13238-015-0153-5 2286:10.1017/s0963180110000848 2205:10.1007/s10897-005-9014-3 1568:Career paths and training 1462:maple syrup urine disease 1270:maple syrup urine disease 1168:chromosomal abnormalities 821:Australia and New Zealand 814:obstetrics and gynecology 725:22q11.2 deletion syndrome 682:connective tissue disease 609:Abnormal fetal ultrasound 488:intellectual disabilities 4564:Transplantation medicine 4455:Clinical neurophysiology 4372:Obstetric anesthesiology 4292:Interventional radiology 4052:Digestive system surgery 3556:Human Molecular Genetics 3427:10.1073/pnas.95.19.11389 2962:Annu Rev Genom Hum Genet 2790:Annu Rev Genom Hum Genet 2268:KOCH, TOM (2011-03-25). 1464:, organic acidurias and 924:chromosome abnormalities 888:glycogen storage disease 39:Introduction to genetics 4435:Intensive care medicine 4409:Mass gathering medicine 4254:Maternal–fetal medicine 3943:Genetics home reference 3069:10.1126/science.1099870 2410:10.1126/science.aab1028 2235:Rose, Nikolas. (2009). 2086:population substructure 2038:Basic genetics research 1784:Cytogenetic diagnostics 1748:Biochemical diagnostics 1235:Basic metabolic studies 994:abnormalities, such as 4027:Cardiothoracic surgery 3406:Proc Natl Acad Sci USA 2767:10.1093/hmg/11.20.2455 2721:10.1093/hmg/11.20.2417 2102:Full genome sequencing 1694:differential diagnosis 1640: 1193: 1176:homologous chromosomes 1132:differential diagnosis 1014:Mitochondrial genetics 616:2. Pediatric genetics 463: 5139:List of genetic codes 4678:Personalized medicine 4537:Reproductive medicine 4462:Occupational medicine 4416:Evolutionary medicine 3795:Chaturvedi N (2001). 2578:MIT Technology Review 2078:Further information: 1867:Laboratory technician 1638: 1537:Mucopolysaccharidoses 1398:trinucleotide repeats 1258:liquid chromatography 1188:Further information: 1153: 1126:Diagnostic evaluation 1115:advanced maternal age 1004:Prader-willi syndrome 956:single gene disorders 900:peroxisomal disorders 696:breast/ovarian cancer 452:Mendelian inheritance 449: 437:personalized medicine 329:Personalized medicine 323:Personalized medicine 186:Quantitative genetics 181:Mendelian inheritance 5038:Behavioural genetics 4698:Traditional medicine 4658:Alternative medicine 4525:Addiction psychiatry 4339:Transfusion medicine 4334:Medical microbiology 4249:Gynecologic oncology 4101:Reproductive surgery 3814:10.1093/ije/30.5.925 3746:McKeigue PM (2005). 1954:Genetics in Medicine 1944:on a monthly basis. 1757:Biochemical genetics 1605:create a new article 1597:improve this article 1511:urea cycle disorders 1466:urea cycle disorders 1330:urea cycle disorders 1312:anaerobic metabolism 1297:metabolic conditions 1266:urea cycle disorders 1184:mitochondrial genome 908:urea cycle disorders 662:cardiac dysrhythmias 585:hereditary disorders 579:Clinical genetics a 565:Human Genome Project 397:hereditary disorders 249:Branches of genetics 5118:Population genomics 5108:Molecular evolution 5068:Genetic engineering 4720:History of medicine 4703:Veterinary medicine 4510:Preventive medicine 4362:Adolescent medicine 4204:Infectious diseases 3863:10.1038/nature01626 3854:2003Natur.422..835C 3418:1998PNAS...9511389M 3412:(19): 11389–11393. 3061:2004Sci...305..869C 2461:2015Natur.519..410L 2402:2015Sci...348...36B 2173:"Clinical Genetics" 2112:Predictive medicine 1852:Research geneticist 1764:tests that measure 1668:Clinical geneticist 1545:blood brain barrier 1386:gel electrophoresis 1370:mechanisms such as 1160:bands and sub-bands 1068:Population genetics 1030:molecular pathology 833:paediatric medicine 690:4. Cancer genetics 627:developmental delay 441:predictive medicine 219:Genetic engineering 176:Population genetics 47:Part of a series on 5078:Genetic monitoring 4668:Molecular oncology 4625:Doctor of Medicine 4615:Master of Medicine 4532:Radiation oncology 4404:Emergency medicine 4357:Addiction medicine 4324:Clinical chemistry 4319:Clinical pathology 4111:Transplant surgery 4069:Orthopedic surgery 4047:Colorectal surgery 3949:information center 3568:10.1093/hmg/ddn268 3108:2006-06-24 at the 2528:Protein & Cell 1825:Molecular genetics 1816:Molecular genetics 1641: 1376:uniparental disomy 1372:genomic imprinting 1284:as can be seen in 1194: 1186:(at bottom left). 1146:Chromosome studies 1104:skeletal dysplasia 1042:Genetic counselors 1036:Genetic counseling 1008:uniparental disomy 976:Huntington disease 946:Molecular genetics 896:metabolic acidosis 749:Huntington disease 737:Fragile X syndrome 652:3. Adult genetics 644:skeletal dysplasia 604:prenatal screening 512:prenatal diagnosis 500:skeletal dysplasia 464: 191:Molecular genetics 150:History and topics 5170: 5169: 5093:He Jiankui affair 5083:Genetic genealogy 5073:Genetic diversity 5002:the British Isles 4907:Genetic variation 4786: 4785: 4620:Master of Surgery 4584: 4583: 4569:Tropical medicine 4515:Prison healthcare 4430:Hospital medicine 4394:Disaster medicine 4384:Aviation medicine 4199:Hospital medicine 4106:Surgical oncology 4091:Pediatric surgery 4085: 4032:Endocrine surgery 3920:978-0-85484-127-1 3899:; Lois Reynolds; 3848:(6934): 835–847. 3562:(R2): R143–R150. 3276:(9357): 598–604. 3130:(6788): 847–856. 3055:(5685): 869–872. 2751:(20): 2455–2461. 2714:(20): 2417–2423. 2455:(7544): 410–411. 2246:978-0-691-12190-1 2028: 2027: 1880: 1879: 1842:Southern blotting 1714:genetic counselor 1705:Genetic counselor 1633: 1632: 1625: 1607:, as appropriate. 1493:, treatment with 1382:Southern blotting 1344:Molecular studies 996:Angelman syndrome 806:internal medicine 755:, and many more. 745:neurofibromatosis 733:Williams syndrome 677:neurodegeneration 593:Prenatal genetics 581:medical specialty 575:Clinical genetics 569:genetic disorders 410:genetic disorders 391:is the branch of 386: 385: 113:Genetic variation 18:Clinical genetics 16:(Redirected from 5195: 5183:Medical genetics 5160: 5159: 5123:Reverse genetics 5098:Medical genetics 4813: 4806: 4799: 4790: 4776: 4775: 4766: 4756: 4755: 4746: 4745: 4736: 4735: 4440:Medical genetics 4425:General practice 4302:Nuclear medicine 4177:Gastroenterology 4133:Vascular surgery 4083: 4010: 3984: 3977: 3970: 3961: 3932: 3884: 3883: 3865: 3833: 3827: 3826: 3816: 3792: 3786: 3785: 3775: 3743: 3737: 3736: 3726: 3709:(5): 1001–1013. 3694: 3688: 3687: 3677: 3645: 3639: 3638: 3628: 3596: 3590: 3589: 3579: 3547: 3541: 3540: 3530: 3505: 3499: 3498: 3488: 3471:(6): 1492–1504. 3456: 3450: 3449: 3439: 3429: 3397: 3391: 3390: 3369: 3363: 3362: 3342: 3336: 3335: 3325: 3301: 3265: 3259: 3252: 3246: 3245: 3235: 3211: 3205: 3204: 3194: 3162: 3156: 3155: 3136:10.1038/35015718 3119: 3113: 3095: 3089: 3088: 3044: 3038: 3037: 3027: 2992: 2986: 2985: 2957: 2948: 2947: 2929: 2909: 2903: 2902: 2866: 2857: 2856: 2820: 2814: 2813: 2785: 2779: 2778: 2760: 2740: 2734: 2733: 2723: 2696: 2687: 2686: 2658: 2652: 2648: 2642: 2641: 2639: 2638: 2623: 2617: 2616: 2614: 2612: 2594: 2588: 2587: 2585: 2584: 2569: 2563: 2562: 2552: 2517: 2511: 2510: 2508: 2506: 2489: 2483: 2482: 2472: 2438: 2432: 2431: 2421: 2378: 2372: 2371: 2369: 2367: 2350: 2344: 2343: 2341: 2339: 2322: 2316: 2315: 2305: 2265: 2259: 2258: 2232: 2226: 2225: 2207: 2183: 2177: 2176: 2168: 2162: 2161: 2150: 2144: 2143: 2132: 2023: 2020: 2002: 1995: 1651: 1628: 1621: 1617: 1614: 1608: 1580: 1579: 1572: 1423:infusion therapy 1282:Fanconi syndrome 1213:ring chromosomes 1086:Current practice 1077:(1945) when the 706:endocrine tumors 472:Medical genetics 429:Genetic medicine 389:Medical genetics 378: 371: 364: 351: 346: 345: 241:Medical genetics 237: 232: 231: 63: 44: 21: 5203: 5202: 5198: 5197: 5196: 5194: 5193: 5192: 5188:Cancer research 5173: 5172: 5171: 5166: 5148: 5127: 5026: 5017:the Middle East 4983:Archaeogenetics 4977: 4921: 4860: 4822: 4817: 4787: 4782: 4724: 4713:Chief physician 4646: 4591: 4580: 4574:Travel medicine 4559:Sports medicine 4542:Sexual medicine 4482:Palliative care 4477:Pain management 4421:Family medicine 4399:Diving medicine 4345: 4273: 4235: 4228: 4144: 4137: 4096:Plastic surgery 4042:General surgery 4022:Cardiac surgery 4003: 4001: 3993: 3988: 3939: 3921: 3903:, eds. (2010). 3895: 3892: 3890:Further reading 3887: 3835: 3834: 3830: 3801:Int J Epidemiol 3794: 3793: 3789: 3745: 3744: 3740: 3696: 3695: 3691: 3660:(5): 979–1000. 3647: 3646: 3642: 3598: 3597: 3593: 3549: 3548: 3544: 3507: 3506: 3502: 3458: 3457: 3453: 3399: 3398: 3394: 3371: 3370: 3366: 3344: 3343: 3339: 3303: 3267: 3266: 3262: 3253: 3249: 3213: 3212: 3208: 3164: 3163: 3159: 3121: 3120: 3116: 3110:Wayback Machine 3096: 3092: 3046: 3045: 3041: 2994: 2993: 2989: 2959: 2958: 2951: 2927:10.1.1.398.8937 2911: 2910: 2906: 2868: 2867: 2860: 2822: 2821: 2817: 2787: 2786: 2782: 2758:10.1.1.497.3708 2742: 2741: 2737: 2698: 2697: 2690: 2660: 2659: 2655: 2649: 2645: 2636: 2634: 2625: 2624: 2620: 2610: 2608: 2596: 2595: 2591: 2582: 2580: 2571: 2570: 2566: 2519: 2518: 2514: 2504: 2502: 2491: 2490: 2486: 2470:10.1038/519410a 2440: 2439: 2435: 2380: 2379: 2375: 2365: 2363: 2352: 2351: 2347: 2337: 2335: 2324: 2323: 2319: 2267: 2266: 2262: 2247: 2234: 2233: 2229: 2185: 2184: 2180: 2170: 2169: 2165: 2152: 2151: 2147: 2134: 2133: 2129: 2125: 2098: 2082: 2076: 2054: 2048: 2040: 2033:genetic testing 2024: 2018: 2015: 2008:needs expansion 1993: 1986: 1930: 1885: 1629: 1618: 1612: 1609: 1594: 1581: 1577: 1570: 1554: 1529:Gaucher disease 1503:sodium benzoate 1458:phenylketonuria 1441: 1435: 1407: 1364:DNA methylation 1346: 1250:phenylketonuria 1237: 1192: 1162:as used in the 1148: 1128: 1088: 1051: 1038: 1016: 984:Noonan syndrome 980:Marfan syndrome 964:cystic fibrosis 948: 916: 904:phenylketonuria 857: 761: 741:Marfan syndrome 729:Turner syndrome 577: 560: 536:ophthalmologist 469: 382: 341: 334: 333: 324: 316: 315: 314: 313: 262: 254: 253: 245: 223: 204: 196: 195: 151: 143: 142: 129: 128: 127: 71: 42: 35: 28: 23: 22: 15: 12: 11: 5: 5201: 5199: 5191: 5190: 5185: 5175: 5174: 5168: 5167: 5165: 5164: 5153: 5150: 5149: 5147: 5146: 5141: 5135: 5133: 5129: 5128: 5126: 5125: 5120: 5115: 5113:Plant genetics 5110: 5105: 5100: 5095: 5090: 5085: 5080: 5075: 5070: 5065: 5060: 5055: 5053:Genome editing 5050: 5045: 5040: 5034: 5032: 5031:Related topics 5028: 5027: 5025: 5024: 5019: 5014: 5009: 5004: 4999: 4994: 4988: 4986: 4979: 4978: 4976: 4975: 4970: 4965: 4960: 4955: 4953:Immunogenetics 4950: 4945: 4940: 4935: 4929: 4927: 4923: 4922: 4920: 4919: 4914: 4909: 4904: 4899: 4894: 4889: 4884: 4879: 4874: 4868: 4866: 4865:Key components 4862: 4861: 4859: 4858: 4853: 4848: 4843: 4838: 4833: 4827: 4824: 4823: 4818: 4816: 4815: 4808: 4801: 4793: 4784: 4783: 4781: 4780: 4770: 4760: 4750: 4740: 4729: 4726: 4725: 4723: 4722: 4717: 4716: 4715: 4705: 4700: 4695: 4690: 4685: 4680: 4675: 4670: 4665: 4660: 4654: 4652: 4651:Related topics 4648: 4647: 4645: 4644: 4643: 4642: 4632: 4627: 4622: 4617: 4612: 4607: 4602: 4600:Medical school 4596: 4594: 4586: 4585: 4582: 4581: 4579: 4578: 4577: 4576: 4566: 4561: 4556: 4554:Sleep medicine 4551: 4550: 4549: 4539: 4534: 4529: 4528: 4527: 4517: 4512: 4507: 4501: 4496: 4495: 4494: 4484: 4479: 4474: 4469: 4464: 4459: 4458: 4457: 4447: 4442: 4437: 4432: 4427: 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Genet 3640: 3617:10.1086/420855 3611:(5): 965–978. 3605:Am J Hum Genet 3591: 3542: 3528:10.1038/ng1333 3521:(4): 388–393. 3500: 3477:10.1086/375613 3465:Am J Hum Genet 3451: 3392: 3381:(6): 513–520. 3364: 3353:(6): 505–512. 3337: 3323:10.1038/ng1337 3316:(5): 512–517. 3260: 3247: 3206: 3183:10.1086/324069 3177:(5): 936–950. 3171:Am J Hum Genet 3157: 3114: 3090: 3039: 3016:10.1086/321272 3010:(1): 124–137. 3004:Am J Hum Genet 2987: 2949: 2920:(3): 135–140. 2904: 2877:(2): 151–157. 2858: 2837:10.1038/ng1071 2831:(2): 177–182. 2815: 2780: 2735: 2688: 2669:(9): 502–510. 2653: 2643: 2618: 2589: 2564: 2512: 2499:New York Times 2484: 2433: 2396:(6230): 36–8. 2373: 2360:New York Times 2345: 2332:New York Times 2317: 2280:(2): 191–203. 2260: 2245: 2227: 2178: 2163: 2145: 2126: 2124: 2121: 2120: 2119: 2114: 2109: 2104: 2097: 2094: 2075: 2072: 2050:Main article: 2047: 2044: 2039: 2036: 2026: 2025: 2005: 2003: 1992: 1989: 1985: 1982: 1929: 1926: 1915:of non-viable 1909:basic research 1899:, to edit the 1884: 1881: 1878: 1877: 1874: 1871: 1868: 1864: 1863: 1860: 1856: 1853: 1849: 1848: 1845: 1838:DNA sequencing 1820: 1817: 1813: 1812: 1809: 1788: 1785: 1781: 1780: 1777: 1752: 1749: 1745: 1744: 1741: 1737: 1734: 1730: 1729: 1726: 1709: 1706: 1702: 1701: 1697: 1686: 1669: 1665: 1664: 1661: 1658: 1655: 1631: 1630: 1591:of the subject 1589:worldwide view 1584: 1582: 1575: 1569: 1566: 1565: 1564: 1561: 1558: 1553: 1552:Other examples 1550: 1521: 1520: 1483:homocystinuria 1474: 1473: 1450: 1449: 1439: 1434: 1431: 1406: 1403: 1402: 1401: 1379: 1361: 1350:DNA sequencing 1345: 1342: 1341: 1340: 1337: 1315: 1308: 1300: 1289: 1242:newborn screen 1236: 1233: 1232: 1231: 1220: 1216: 1206: 1180:sex chromosome 1174:. It shows 22 1147: 1144: 1127: 1124: 1123: 1122: 1118: 1111: 1096: 1087: 1084: 1082:21st century. 1050: 1047: 1037: 1034: 1015: 1012: 960:achondroplasia 947: 944: 915: 912: 856: 853: 837:adult medicine 760: 757: 713: 712: 711: 710: 709: 708: 703: 698: 688: 687: 686: 685: 684: 679: 670: 668:kidney disease 664: 658:cardiomyopathy 650: 649: 648: 647: 646: 637: 624: 614: 613: 612: 611: 610: 607: 600: 576: 573: 559: 558:Subspecialties 556: 528:cardiovascular 510:genetics, and 468: 465: 460:sex chromosome 401:human genetics 384: 383: 381: 380: 373: 366: 358: 355: 354: 353: 352: 336: 335: 332: 331: 325: 322: 321: 318: 317: 312: 311: 306: 301: 296: 291: 289:Immunogenetics 286: 281: 276: 271: 265: 264: 263: 260: 259: 256: 255: 252: 251: 244: 243: 238: 221: 216: 214:DNA sequencing 211: 205: 202: 201: 198: 197: 194: 193: 188: 183: 178: 173: 163: 158: 152: 149: 148: 145: 144: 141: 140: 135: 126: 125: 120: 115: 110: 105: 100: 95: 90: 85: 80: 74: 73: 72: 70:Key components 69: 68: 65: 64: 56: 55: 49: 48: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 5200: 5189: 5186: 5184: 5181: 5180: 5178: 5163: 5155: 5154: 5151: 5145: 5142: 5140: 5137: 5136: 5134: 5130: 5124: 5121: 5119: 5116: 5114: 5111: 5109: 5106: 5104: 5101: 5099: 5096: 5094: 5091: 5089: 5086: 5084: 5081: 5079: 5076: 5074: 5071: 5069: 5066: 5064: 5061: 5059: 5056: 5054: 5051: 5049: 5046: 5044: 5041: 5039: 5036: 5035: 5033: 5029: 5023: 5020: 5018: 5015: 5013: 5010: 5008: 5005: 5003: 5000: 4998: 4995: 4993: 4990: 4989: 4987: 4984: 4980: 4974: 4971: 4969: 4966: 4964: 4961: 4959: 4956: 4954: 4951: 4949: 4946: 4944: 4941: 4939: 4936: 4934: 4931: 4930: 4928: 4924: 4918: 4915: 4913: 4910: 4908: 4905: 4903: 4900: 4898: 4895: 4893: 4890: 4888: 4885: 4883: 4880: 4878: 4875: 4873: 4870: 4869: 4867: 4863: 4857: 4854: 4852: 4849: 4847: 4844: 4842: 4839: 4837: 4834: 4832: 4829: 4828: 4825: 4821: 4814: 4809: 4807: 4802: 4800: 4795: 4794: 4791: 4779: 4771: 4769: 4765: 4761: 4759: 4751: 4749: 4741: 4739: 4731: 4730: 4727: 4721: 4718: 4714: 4711: 4710: 4709: 4706: 4704: 4701: 4699: 4696: 4694: 4691: 4689: 4686: 4684: 4683:Public health 4681: 4679: 4676: 4674: 4671: 4669: 4666: 4664: 4663:Allied health 4661: 4659: 4656: 4655: 4653: 4649: 4641: 4638: 4637: 4636: 4633: 4631: 4628: 4626: 4623: 4621: 4618: 4616: 4613: 4611: 4608: 4606: 4603: 4601: 4598: 4597: 4595: 4593: 4587: 4575: 4572: 4571: 4570: 4567: 4565: 4562: 4560: 4557: 4555: 4552: 4548: 4545: 4544: 4543: 4540: 4538: 4535: 4533: 4530: 4526: 4523: 4522: 4521: 4518: 4516: 4513: 4511: 4508: 4505: 4502: 4500: 4497: 4493: 4490: 4489: 4488: 4485: 4483: 4480: 4478: 4475: 4473: 4472:Oral medicine 4470: 4468: 4467:Ophthalmology 4465: 4463: 4460: 4456: 4453: 4452: 4451: 4448: 4446: 4443: 4441: 4438: 4436: 4433: 4431: 4428: 4426: 4422: 4419: 4417: 4414: 4410: 4407: 4406: 4405: 4402: 4400: 4397: 4395: 4392: 4390: 4387: 4385: 4382: 4378: 4375: 4373: 4370: 4369: 4368: 4365: 4363: 4360: 4358: 4355: 4354: 4352: 4348: 4340: 4337: 4335: 4332: 4330: 4329:Cytopathology 4327: 4325: 4322: 4320: 4317: 4315: 4312: 4311: 4310: 4307: 4303: 4300: 4298: 4295: 4293: 4290: 4289: 4288: 4285: 4284: 4282: 4280: 4276: 4270: 4269:Urogynecology 4267: 4265: 4262: 4260: 4257: 4255: 4252: 4250: 4247: 4245: 4242: 4241: 4239: 4237: 4231: 4225: 4222: 4220: 4217: 4215: 4212: 4210: 4207: 4205: 4202: 4200: 4197: 4195: 4192: 4190: 4187: 4183: 4180: 4179: 4178: 4175: 4173: 4172:Endocrinology 4170: 4168: 4165: 4163: 4160: 4158: 4154: 4151: 4150: 4148: 4146: 4140: 4134: 4131: 4127: 4124: 4123: 4122: 4119: 4117: 4114: 4112: 4109: 4107: 4104: 4102: 4099: 4097: 4094: 4092: 4089: 4082: 4081: 4080: 4077: 4075: 4072: 4070: 4067: 4065: 4062: 4060: 4057: 4053: 4050: 4048: 4045: 4044: 4043: 4040: 4038: 4035: 4033: 4030: 4028: 4025: 4023: 4020: 4019: 4017: 4015: 4011: 4008: 4006: 4000: 3996: 3992: 3985: 3980: 3978: 3973: 3971: 3966: 3965: 3962: 3956: 3952: 3950: 3946: 3944: 3941: 3940: 3936: 3930: 3926: 3922: 3916: 3912: 3908: 3907: 3902: 3898: 3894: 3893: 3889: 3881: 3877: 3873: 3869: 3864: 3859: 3855: 3851: 3847: 3843: 3839: 3832: 3829: 3824: 3820: 3815: 3810: 3806: 3802: 3798: 3791: 3788: 3783: 3779: 3774: 3769: 3765: 3761: 3757: 3753: 3749: 3742: 3739: 3734: 3730: 3725: 3720: 3716: 3712: 3708: 3704: 3700: 3693: 3690: 3685: 3681: 3676: 3671: 3667: 3663: 3659: 3655: 3651: 3644: 3641: 3636: 3632: 3627: 3622: 3618: 3614: 3610: 3606: 3602: 3595: 3592: 3587: 3583: 3578: 3573: 3569: 3565: 3561: 3557: 3553: 3546: 3543: 3538: 3534: 3529: 3524: 3520: 3516: 3512: 3504: 3501: 3496: 3492: 3487: 3482: 3478: 3474: 3470: 3466: 3462: 3455: 3452: 3447: 3443: 3438: 3433: 3428: 3423: 3419: 3415: 3411: 3407: 3403: 3396: 3393: 3388: 3384: 3380: 3376: 3368: 3365: 3360: 3356: 3352: 3348: 3341: 3338: 3333: 3329: 3324: 3319: 3315: 3311: 3307: 3299: 3295: 3291: 3287: 3283: 3279: 3275: 3271: 3264: 3261: 3257: 3251: 3248: 3243: 3239: 3234: 3229: 3225: 3221: 3217: 3210: 3207: 3202: 3198: 3193: 3188: 3184: 3180: 3176: 3172: 3168: 3161: 3158: 3153: 3149: 3145: 3141: 3137: 3133: 3129: 3125: 3118: 3115: 3111: 3107: 3104: 3100: 3094: 3091: 3086: 3082: 3078: 3074: 3070: 3066: 3062: 3058: 3054: 3050: 3043: 3040: 3035: 3031: 3026: 3021: 3017: 3013: 3009: 3005: 3001: 2997: 2991: 2988: 2983: 2979: 2975: 2971: 2967: 2963: 2956: 2954: 2950: 2945: 2941: 2937: 2933: 2928: 2923: 2919: 2915: 2908: 2905: 2900: 2896: 2892: 2888: 2884: 2883:10.1038/79866 2880: 2876: 2872: 2865: 2863: 2859: 2854: 2850: 2846: 2842: 2838: 2834: 2830: 2826: 2819: 2816: 2811: 2807: 2803: 2799: 2795: 2791: 2784: 2781: 2776: 2772: 2768: 2764: 2759: 2754: 2750: 2746: 2745:Hum Mol Genet 2739: 2736: 2731: 2727: 2722: 2717: 2713: 2709: 2708:Hum Mol Genet 2705: 2701: 2695: 2693: 2689: 2684: 2680: 2676: 2672: 2668: 2664: 2657: 2654: 2647: 2644: 2633: 2629: 2622: 2619: 2606: 2605: 2600: 2593: 2590: 2579: 2575: 2568: 2565: 2560: 2556: 2551: 2546: 2542: 2538: 2535:(5): 363–72. 2534: 2530: 2529: 2524: 2516: 2513: 2501: 2500: 2495: 2488: 2485: 2480: 2476: 2471: 2466: 2462: 2458: 2454: 2450: 2449: 2444: 2437: 2434: 2429: 2425: 2420: 2415: 2411: 2407: 2403: 2399: 2395: 2391: 2390: 2385: 2382:March 2015). 2377: 2374: 2362: 2361: 2356: 2349: 2346: 2334: 2333: 2328: 2321: 2318: 2313: 2309: 2304: 2299: 2295: 2291: 2287: 2283: 2279: 2275: 2271: 2264: 2261: 2256: 2252: 2248: 2242: 2238: 2231: 2228: 2223: 2219: 2215: 2211: 2206: 2201: 2197: 2193: 2189: 2182: 2179: 2174: 2167: 2164: 2159: 2155: 2149: 2146: 2141: 2137: 2131: 2128: 2122: 2118: 2115: 2113: 2110: 2108: 2105: 2103: 2100: 2099: 2095: 2093: 2089: 2087: 2081: 2073: 2071: 2067: 2063: 2060: 2053: 2045: 2043: 2037: 2035: 2034: 2022: 2013: 2009: 2006:This section 2004: 2001: 1997: 1996: 1990: 1988: 1983: 1981: 1979: 1975: 1971: 1967: 1963: 1958: 1956: 1955: 1950: 1945: 1943: 1939: 1935: 1927: 1925: 1922: 1921:human embryos 1918: 1917:human embryos 1914: 1910: 1906: 1902: 1898: 1894: 1889: 1882: 1875: 1872: 1869: 1866: 1865: 1861: 1857: 1854: 1851: 1850: 1846: 1843: 1839: 1835: 1831: 1827: 1826: 1821: 1818: 1815: 1814: 1810: 1807: 1803: 1799: 1795: 1794: 1789: 1786: 1783: 1782: 1778: 1775: 1771: 1770:organic acids 1767: 1763: 1759: 1758: 1753: 1750: 1747: 1746: 1742: 1738: 1736:BA/BS, MS, RN 1735: 1732: 1731: 1727: 1724: 1720: 1719:Obstetricians 1716: 1715: 1710: 1707: 1704: 1703: 1698: 1695: 1691: 1687: 1685: 1681: 1677: 1673: 1670: 1667: 1666: 1662: 1659: 1656: 1653: 1652: 1649: 1647: 1637: 1627: 1624: 1616: 1606: 1602: 1598: 1592: 1590: 1583: 1574: 1573: 1567: 1562: 1559: 1556: 1555: 1551: 1549: 1546: 1542: 1538: 1534: 1533:Fabry disease 1530: 1526: 1519: 1516: 1515: 1514: 1512: 1508: 1504: 1500: 1496: 1492: 1488: 1484: 1480: 1471: 1470: 1469: 1467: 1463: 1459: 1455: 1447: 1446: 1445: 1438: 1432: 1430: 1428: 1424: 1420: 1416: 1412: 1404: 1399: 1395: 1391: 1387: 1383: 1380: 1377: 1373: 1369: 1365: 1362: 1359: 1355: 1351: 1348: 1347: 1343: 1338: 1335: 1334:liver failure 1331: 1327: 1323: 1319: 1316: 1313: 1309: 1306: 1301: 1298: 1294: 1293:organic acids 1290: 1287: 1283: 1279: 1275: 1271: 1267: 1263: 1259: 1255: 1254: 1253: 1251: 1247: 1243: 1234: 1228: 1224: 1221: 1217: 1214: 1210: 1207: 1204: 1200: 1199: 1198: 1191: 1185: 1181: 1177: 1173: 1169: 1165: 1161: 1157: 1152: 1145: 1143: 1141: 1137: 1133: 1125: 1119: 1116: 1112: 1109: 1105: 1101: 1097: 1094: 1093: 1092: 1085: 1083: 1080: 1076: 1071: 1070:was created. 1069: 1065: 1061: 1060:brachydactyly 1056: 1055:Gregor Mendel 1048: 1046: 1043: 1035: 1033: 1031: 1026: 1024: 1023:mitochondrial 1020: 1019:Mitochondrial 1013: 1011: 1009: 1005: 1001: 997: 993: 989: 988:Rett syndrome 985: 981: 977: 973: 972:breast cancer 970:, hereditary 969: 965: 961: 957: 953: 945: 943: 941: 937: 933: 929: 925: 921: 913: 911: 909: 905: 901: 897: 893: 889: 885: 881: 877: 873: 872:carbohydrates 869: 865: 861: 854: 852: 850: 846: 842: 838: 834: 830: 826: 822: 817: 815: 811: 807: 803: 799: 795: 794:United States 790: 788: 783: 781: 776: 774: 770: 766: 758: 756: 754: 750: 746: 742: 738: 734: 730: 726: 722: 721:Down syndrome 718: 707: 704: 702: 699: 697: 694: 693: 692: 691: 689: 683: 680: 678: 674: 671: 669: 665: 663: 659: 656: 655: 654: 653: 651: 645: 641: 640:short stature 638: 636: 632: 628: 625: 623: 622:Birth defects 620: 619: 618: 617: 615: 608: 605: 601: 598: 597: 596: 595: 594: 590: 589: 588: 586: 582: 574: 572: 570: 566: 557: 555: 553: 549: 545: 541: 537: 533: 529: 525: 521: 517: 513: 509: 505: 501: 497: 496:mitochondrial 493: 489: 485: 484:dysmorphology 481: 480:birth defects 477: 473: 466: 461: 457: 454:patterns. An 453: 448: 444: 442: 438: 434: 430: 426: 422: 418: 413: 411: 406: 402: 398: 394: 390: 379: 374: 372: 367: 365: 360: 359: 357: 356: 350: 340: 339: 338: 337: 330: 327: 326: 320: 319: 310: 307: 305: 302: 300: 297: 295: 292: 290: 287: 285: 282: 280: 277: 275: 272: 270: 267: 266: 258: 257: 250: 247: 246: 242: 239: 235: 226: 222: 220: 217: 215: 212: 210: 207: 206: 200: 199: 192: 189: 187: 184: 182: 179: 177: 174: 171: 167: 164: 162: 159: 157: 154: 153: 147: 146: 139: 136: 134: 131: 130: 124: 121: 119: 116: 114: 111: 109: 106: 104: 101: 99: 96: 94: 91: 89: 86: 84: 81: 79: 76: 75: 67: 66: 62: 58: 57: 54: 50: 46: 45: 40: 33: 19: 5097: 5063:Genetic code 4997:the Americas 4973:Quantitative 4943:Cytogenetics 4938:Conservation 4831:Introduction 4688:Rural health 4673:Nanomedicine 4439: 4224:Rheumatology 4155: / 4074:Hand surgery 4059:Neurosurgery 3905: 3901:Tilli Tansey 3897:Peter Harper 3845: 3841: 3831: 3804: 3800: 3790: 3755: 3751: 3741: 3706: 3702: 3692: 3657: 3653: 3643: 3608: 3604: 3594: 3559: 3555: 3545: 3518: 3514: 3503: 3468: 3464: 3454: 3409: 3405: 3395: 3378: 3374: 3367: 3350: 3346: 3340: 3313: 3309: 3273: 3269: 3263: 3255: 3250: 3226:(2): 45–61. 3223: 3219: 3209: 3174: 3170: 3160: 3127: 3123: 3117: 3098: 3093: 3052: 3048: 3042: 3007: 3003: 2996:Pritchard JK 2990: 2965: 2961: 2917: 2914:Trends Genet 2913: 2907: 2874: 2870: 2828: 2824: 2818: 2793: 2789: 2783: 2748: 2744: 2738: 2711: 2707: 2700:Pritchard JK 2666: 2663:Trends Genet 2662: 2656: 2646: 2635:. Retrieved 2631: 2621: 2609:. Retrieved 2602: 2592: 2581:. Retrieved 2577: 2567: 2532: 2526: 2515: 2503:. Retrieved 2497: 2487: 2452: 2446: 2436: 2393: 2387: 2376: 2364:. Retrieved 2358: 2348: 2336:. Retrieved 2330: 2320: 2277: 2273: 2263: 2236: 2230: 2198:(2): 77–83. 2195: 2191: 2181: 2166: 2157: 2148: 2139: 2130: 2090: 2083: 2068: 2064: 2055: 2041: 2029: 2016: 2012:adding to it 2007: 1987: 1959: 1952: 1946: 1931: 1911:to edit the 1901:human genome 1890: 1886: 1823: 1793:Cytogenetics 1791: 1755: 1712: 1642: 1619: 1610: 1586: 1563:Gene therapy 1522: 1509:build-up in 1505:to decrease 1475: 1454:galactosemia 1451: 1442: 1436: 1427:gene therapy 1408: 1246:galactosemia 1238: 1195: 1129: 1089: 1075:World War II 1072: 1052: 1039: 1027: 1017: 949: 917: 914:Cytogenetics 884:galactosemia 858: 820: 818: 800:-accredited 793: 791: 784: 777: 764: 762: 714: 701:bowel cancer 578: 561: 548:dermatologic 471: 470: 433:gene therapy 428: 419:such as the 414: 388: 387: 309:Quantitative 279:Cytogenetics 274:Conservation 240: 156:Introduction 5043:Epigenetics 4758:Wikiproject 4547:Venereology 4492:Neonatology 4389:Dermatology 4244:Gynaecology 4236:gynaecology 4219:Pulmonology 4037:Eye surgery 3999:Specialties 3099:Genome Biol 2796:: 129–152. 2019:August 2008 1966:New Zealand 1907:results of 1897:zinc finger 1766:amino acids 1762:biochemical 1723:Oncologists 1660:Description 1613:August 2015 1499:Tyrosinemia 1491:biotinidase 1415:chromosomes 1138:disorders, 1136:chromosomal 974:(BRCA1/2), 920:chromosomes 876:amino acids 868:biochemical 804:program in 544:psychiatric 520:morphologic 498:disorders, 5177:Categories 5048:Geneticist 5022:South Asia 4968:Population 4948:Ecological 4917:Amino acid 4897:Nucleotide 4872:Chromosome 4520:Psychiatry 4506:(PM&R) 4499:Phlebology 4487:Pediatrics 4314:Anatomical 4279:Diagnostic 4259:Obstetrics 4209:Nephrology 4194:Hematology 4189:Geriatrics 4182:Hepatology 4167:Cardiology 4157:Immunology 3955:Phenomizer 3758:(1): 1–7. 3101:(2002) 3 ( 2637:2016-06-10 2583:2016-06-10 2123:References 2117:DNA Valley 1870:AS, BS, MS 1798:karyotypes 1479:pyridoxine 1472:Medication 1405:Treatments 1368:epigenetic 1326:urea cycle 1286:cystinosis 1278:cystinuria 1154:Schematic 1064:hemophilia 992:epigenetic 936:aneuploidy 928:microscopy 810:pediatrics 666:inherited 602:High risk 476:diagnostic 417:phenotypes 304:Population 284:Ecological 209:Geneticist 123:Amino acid 103:Nucleotide 78:Chromosome 4963:Molecular 4958:Microbial 4933:Classical 4708:Physician 4592:education 4450:Neurology 4445:Narcology 4309:Pathology 4287:Radiology 4162:Angiology 4126:Andrology 3929:Q29581774 3880:205209730 3515:Nat Genet 3310:Nat Genet 3220:Genet Med 2968:: 33–67. 2922:CiteSeerX 2871:Nat Genet 2825:Nat Genet 2753:CiteSeerX 2294:0963-1801 2255:995257497 2158:abmgg.org 2140:abmgg.org 1984:bioethics 1962:Australia 1928:Societies 1832:) in the 1830:mutations 1663:Training 1601:talk page 1280:or renal 1203:karyotype 1190:Karyotype 1172:G banding 1156:karyogram 1121:clinics). 860:Metabolic 843:with the 802:residency 532:pulmonary 524:endocrine 299:Molecular 294:Microbial 269:Classical 170:molecular 166:Evolution 5162:Category 5088:Heredity 5058:Genomics 4902:Mutation 4892:Heredity 4856:Glossary 4846:Timeline 4820:Genetics 4738:Category 4214:Oncology 4145:medicine 4143:Internal 3991:Medicine 3925:Wikidata 3872:12695777 3823:11689494 3782:15540159 3733:15088270 3684:15088269 3635:15088268 3586:18852203 3537:15052270 3495:12817591 3387:12050091 3359:12050090 3332:15052271 3298:14255234 3290:12598158 3242:11882781 3201:11565063 3144:10866211 3106:Archived 3085:39429794 3077:15297675 3034:11404818 2998:(2001). 2982:14527296 2944:12615007 2891:11017069 2845:12524541 2810:12142358 2775:12351581 2730:12351577 2702:(2002). 2683:11525833 2604:BBC News 2559:25894090 2505:24 April 2479:25810189 2428:25791083 2366:20 March 2338:20 March 2312:21435294 2222:25809385 2214:16761103 2096:See also 1991:Research 1905:reported 1690:pedigree 1595:You may 1523:Certain 1264:such as 1079:eugenics 673:dementia 635:epilepsy 516:genetics 456:autosome 425:albinism 421:genetics 403:in that 393:medicine 349:Category 234:template 225:Genomics 203:Research 108:Mutation 98:Heredity 53:Genetics 4841:History 4836:Outline 4778:Outline 4748:Commons 4693:Therapy 4590:Medical 4153:Allergy 4121:Urology 4014:Surgery 3850:Bibcode 3773:1196412 3724:1181963 3675:1181990 3626:1181989 3577:2782357 3486:1180309 3446:9736746 3414:Bibcode 3192:1274370 3152:4392356 3057:Bibcode 3049:Science 3025:1226027 2853:6850292 2651:396-401 2632:BioNews 2611:10 June 2550:4417674 2457:Bibcode 2419:4394183 2398:Bibcode 2389:Science 2303:3535762 1507:ammonia 1460:(PKU), 1358:introns 1318:Ammonia 1049:History 792:In the 606:results 161:History 133:Outline 5007:Europe 4992:Africa 4926:Fields 4912:Allele 4887:Genome 4768:Portal 4635:MD–PhD 3927: 3917: 3878: 3870: 3842:Nature 3821: 3780: 3770: 3731: 3721: 3682: 3672: 3633: 3623: 3584: 3574: 3535: 3493: 3483: 3444: 3434: 3385: 3357: 3330: 3296: 3288: 3270:Lancet 3240: 3199: 3189: 3150: 3142: 3124:Nature 3083: 3075: 3032: 3022: 2980: 2942: 2924: 2899:685795 2897: 2889: 2851: 2843: 2808: 2773: 2755: 2728: 2681: 2557: 2547: 2477: 2448:Nature 2426: 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