974:. In a Punnett square, the genotypes of the parents are placed on the outside. An uppercase letter is typically used to represent the dominant allele, and a lowercase letter is used to represent the recessive allele. The possible genotypes of the offspring can then be determined by combining the parent genotypes. In the example on the right, both parents are heterozygous, with a genotype of Bb. The offspring can inherit a dominant allele from each parent, making them homozygous with a genotype of BB. The offspring can inherit a dominant allele from one parent and a recessive allele from the other parent, making them heterozygous with a genotype of Bb. Finally, the offspring could inherit a recessive allele from each parent, making them homozygous with a genotype of bb. Plants with the BB and Bb genotypes will look the same, since the B allele is dominant. The plant with the bb genotype will have the recessive trait.
1002:, one from each parent, while males inherit an X chromosome from their mother and a Y chromosome from their father. X-linked dominant conditions can be distinguished from autosomal dominant conditions in pedigrees by the lack of transmission from fathers to sons, since affected fathers only pass their X chromosome to their daughters. In X-linked recessive conditions, males are typically affected more commonly because they are hemizygous, with only one X chromosome. In females, the presence of a second X chromosome will prevent the condition from appearing. Females are therefore carriers of the condition and can pass the trait on to their sons.
963:, who performed experiments with pea plants to determine how traits were passed on from generation to generation. He studied phenotypes that were easily observed, such as plant height, petal color, or seed shape. He was able to observe that if he crossed two true-breeding plants with distinct phenotypes, all the offspring would have the same phenotype. For example, when he crossed a tall plant with a short plant, all the resulting plants would be tall. However, when he self-fertilized the plants that resulted, about 1/4 of the second generation would be short. He concluded that some traits were
990:
1006:
967:, such as tall height, and others were recessive, like short height. Though Mendel was not aware at the time, each phenotype he studied was controlled by a single gene with two alleles. In the case of plant height, one allele caused the plants to be tall, and the other caused plants to be short. When the tall allele was present, the plant would be tall, even if the plant was heterozygous. In order for the plant to be short, it had to be homozygous for the recessive allele.
940:
758:
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43:
1085:
but a separate "B" gene controls hair growth, and a recessive "b" allele causes baldness. If the individual has the BB or Bb genotype, then they produce hair and the hair color phenotype can be observed, but if the individual has a bb genotype, then the person is bald which masks the A gene entirely.
1084:
Epistasis is when the phenotype of one gene is affected by one or more other genes. This is often through some sort of masking effect of one gene on the other. For example, the "A" gene codes for hair color, a dominant "A" allele codes for brown hair, and a recessive "a" allele codes for blonde hair,
913:
from different individuals differ at one DNA base, for example where the sequence AAGCCTA changes to AAGCTTA. This contains two alleles : C and T. SNPs typically have three genotypes, denoted generically AA Aa and aa. In the example above, the three genotypes would be CC, CT and TT. Other types
1114:
Genotyping refers to the method used to determine an individual's genotype. There are a variety of techniques that can be used to assess genotype. The genotyping method typically depends on what information is being sought. Many techniques initially require amplification of the DNA sample, which is
1099:
A polygenic trait is one whose phenotype is dependent on the additive effects of multiple genes. The contributions of each of these genes are typically small and add up to a final phenotype with a large amount of variation. A well studied example of this is the number of sensory bristles on a fly.
889:
Genotype and phenotype are not always directly correlated. Some genes only express a given phenotype in certain environmental conditions. Conversely, some phenotypes could be the result of multiple genotypes. The genotype is commonly mixed up with the phenotype which describes the end result of
997:
Other conditions are inherited in an autosomal recessive pattern, where affected individuals do not typically have an affected parent. Since each parent must have a copy of the recessive allele in order to have an affected offspring, the parents are referred to as carriers of the condition. In
1871:
951:. The letters B and b represent alleles for colour and the pictures show the resultant flowers. The diagram shows the cross between two heterozygous parents where B represents the dominant allele (purple) and b represents the recessive allele (white).
846:
factors. Not all individuals with the same genotype look or act the same way because appearance and behavior are modified by environmental and growing conditions. Likewise, not all organisms that look alike necessarily have the same genotype.
1122:
Some techniques are designed to investigate specific SNPs or alleles in a particular gene or set of genes, such as whether an individual is a carrier for a particular condition. This can be done via a variety of techniques, including
998:
autosomal conditions, the sex of the offspring does not play a role in their risk of being affected. In sex-linked conditions, the sex of the offspring affects their chances of having the condition. In humans, females inherit two
1017:, meaning not all individuals with the disease-causing allele develop signs or symptoms of the disease. Penetrance can also be age-dependent, meaning signs or symptoms of disease are not visible until later in life. For example,
837:
is exclusively determined by genotype. The petals can be purple or white depending on the alleles present in the pea plant. However, other traits are only partially influenced by genotype. These traits are often called
1021:
is an autosomal dominant condition, but up to 25% of individuals with the affected genotype will not develop symptoms until after age 50. Another factor that can complicate
Mendelian inheritance patterns is variable
985:
dominant pattern, meaning individuals with the condition typically have an affected parent as well. A classic pedigree for an autosomal dominant condition shows affected individuals in every generation.
818:. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as
1052:
For some traits, neither allele is completely dominant. Heterozygotes often have an appearance somewhere in between those of homozygotes. For example, a cross between true-breeding red and white
1901:
1720:
810:
or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each
886:
To distinguish the source of an observer's knowledge (one can know about genotype by observing DNA; one can know about phenotype by observing outward appearance of an organism).
1070:
in humans, where both the A and B alleles are expressed when they are present. Individuals with the AB genotype have both A and B proteins expressed on their red blood cells.
902:), Pp (heterozygous), and pp (homozygous recessive). All three have different genotypes but the first two have the same phenotype (purple) as distinct from the third (white).
1135:
can also be used to look for duplications or deletions of genes or gene sections. Other techniques are meant to assess a large number of SNPs across the genome, such as
1132:
1586:
1229:
1208:
829:, the observable traits and characteristics in an individual or organism. The degree to which genotype affects phenotype depends on the trait. For example, the
1331:
1307:
1283:
1250:
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1955:
Caron, Nicholas S.; Wright, Galen EB; Hayden, Michael R. (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.),
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In linear models, the genotypes can be encoded in different manners. Let us consider a biallelic locus with two possible alleles, encoded by
1066:
Codominance refers to traits in which both alleles are expressed in the offspring in approximately equal amounts. A classic example is the
925:
Penetrance is the proportion of individuals showing a specified genotype in their phenotype under a given set of environmental conditions.
890:
both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or various hereditary diseases).
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2127:"The Evolution of Epistasis and Its Links With Genetic Robustness, Complexity and Drift in a Phenotypic Model of Adaptation"
1140:
2366:
1026:, in which individuals with the same genotype show different signs or symptoms of disease. For example, individuals with
2219:"The genetic basis of quantitative variation: numbers of sensory bristles of Drosophila melanogaster as a model system"
1154:
to assess for large duplications or deletions in the chromosome. More detailed information can be determined using
1116:
1039:
775:
58:
685:
20:
1553:
2391:
1159:
1023:
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894:
A simple example to illustrate genotype as distinct from phenotype is the flower colour in pea plants (see
1600:
1067:
1013:
Mendelian patterns of inheritance can be complicated by additional factors. Some diseases show incomplete
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878:
Any given gene will usually cause an observable change in an organism, known as the phenotype. The terms
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These types of additive effects is also the explanation for the amount of variation in human eye color.
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Many traits are not inherited in a
Mendelian fashion, but have more complex patterns of inheritance.
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2015:
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of an organism is its complete set of genetic material. Genotype can also be used to refer to the
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63:
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2188:. Michaelis, Arnd,, Green, Melvin M. (4th completely rev. ed.). Berlin: Springer-Verlag.
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1964:
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1054:
978:
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331:
170:
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616:
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1158:, which provides the specific sequence of all DNA in the coding region of the genome, or
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2027:
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1512:
Alberts B, Bray D, Hopkin K, Johnson A, Lewis J, Raff M, Roberts K, Walter P (2014).
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Large-scale techniques to assess the entire genome are also available. This includes
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2102:"Genetic Dominance: Genotype-Phenotype Relationships | Learn Science at Scitable"
1988:"Genetic Dominance: Genotype-Phenotype Relationships | Learn Science at Scitable"
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2284:
2142:
1932:"Phenotype Variability: Penetrance and Expressivity | Learn Science at Scitable"
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Traits that are determined exclusively by genotype are typically inherited in a
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Part of the genetic makeup of a cell which determines one of its characteristics
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Oversigt Birdy over Det
Kongelige Danske Videnskabernes Selskabs Forhandlingerm
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1956:
1673:"Gregor Mendel and the Principles of Inheritance | Learn Science at Scitable"
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because they are influenced by additional factors, such as environmental and
822:. If the alleles are different, the genotype is referred to as heterozygous.
1851:
Alliance, Genetic; Health, District of
Columbia Department of (2010-02-17).
1750:
Alliance, Genetic; Health, District of
Columbia Department of (2010-02-17).
1697:"12.1 Mendel's Experiments and the Laws of Probability – Biology | OpenStax"
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Here the relation between genotype and phenotype is illustrated, using a
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2125:
Gros, Pierre-Alexis; Nagard, Hervé Le; Tenaillon, Olivier (2009-05-01).
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or conditions in humans or animals. Some conditions are inherited in an
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251:
198:
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42:
34:
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Schönbach, Christian; Ranganathan, Shoba; Nakai, Kenta, eds. (2018).
922:, can have more than two alleles, and thus many different genotypes.
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Glossary of genetics and cytogenetics : classical and molecular
1162:, which sequences the entire genome including non-coding regions.
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pattern. These laws of inheritance were described extensively by
1537:
Johannsen W (1903). "Om arvelighed i samfund og i rene linier".
122:
1620:
Vallente, R. U., PhD. (2020). Single
Nucleotide Polymorphism.
910:
1872:"4.4.1: Inheritance patterns for X-linked and Y-linked genes"
1232:
to correspond to the dominant allele to the reference allele
1150:
to determine the number of chromosomes an individual has and
1009:
An example of a pedigree for an autosomal recessive condition
1591:
which was rewritten, enlarged and translated into German as
1516:(4th ed.). New York, NY: Garland Science. p. 659.
993:
An example of a pedigree for an autosomal dominant condition
2325:
Educational
Materials – Genetic Testing: Current Approaches
2341:
1552:(in German). Jena: Gustav Fischer. 1903. Archived from
905:
A more technical example to illustrate genotype is the
1316:
1292:
1268:
1252:. The following table details the different encoding.
1238:
1176:
909:
or SNP. A SNP occurs when corresponding sequences of
1217:
1196:
1854:
Classic
Mendelian Genetics (Patterns of Inheritance)
1753:
Classic
Mendelian Genetics (Patterns of Inheritance)
2322:Wallace, Stephanie E.; Bean, Lora JH (2020-06-18).
1963:, Seattle (WA): University of Washington, Seattle,
19:For a non-technical introduction to the topic, see
1550:"Erblichkeit in Populationen und in reinen Linien"
1325:
1301:
1277:
1244:
1223:
1202:
1182:
977:These inheritance patterns can also be applied to
1638:(3rd ed.). Oxford: Oxford University Press.
1599:(in German). Jena: Gustav Fischer. Archived from
2273:"Molecular Diagnostics in Personalized Medicine"
1133:multiplex ligation-dependent probe amplification
1139:. This type of technology is commonly used for
2271:Jain, Kewal K. (2015), Jain, Kewal K. (ed.),
1440:"What is genotype? What is phenotype? – pgEd"
783:
8:
1030:can have a variable number of extra digits.
898:). There are three available genotypes, PP (
1815:. Andrew P. Read (5th ed.). New York:
970:One way this can be illustrated is using a
814:found in that species, also referred to as
2279:, New York, NY: Springer, pp. 35–89,
1585:: CS1 maint: location missing publisher (
790:
776:
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947:, for the character of petal colour in a
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882:are distinct for at least two reasons:
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1846:
1844:
1596:Elemente der exakten Erblichkeitslehre
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2328:. University of Washington, Seattle.
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1902:"14.2: Penetrance and Expressivity"
1622:Salem Press Encyclopedia of Science
2073:10.1016/b978-0-12-374984-0.00278-3
2065:Brenner's Encyclopedia of Genetics
2028:10.1016/b978-0-12-374984-0.00784-1
2020:Brenner's Encyclopedia of Genetics
14:
2343:. Elsevier Science. p. 174.
2277:Textbook of Personalized Medicine
1569:Arvelighedslærens elementer horse
757:
756:
743:
41:
2217:Mackay, T. F. (December 1995).
1141:genome-wide association studies
1125:allele specific oligonucleotide
1575:] (in Danish). Copenhagen.
1489:Genetics A Conceptual Approach
1406:Genotype–phenotype distinction
907:single-nucleotide polymorphism
1:
2235:10.1016/s0168-9525(00)89154-4
1634:Allaby, Michael, ed. (2009).
2067:, Elsevier, pp. 63–64,
2022:, Elsevier, pp. 58–60,
1491:. NY, New York: Macmillian.
2285:10.1007/978-1-4939-2553-7_2
2143:10.1534/genetics.108.099127
2408:
1107:
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932:
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18:
2182:Rieger, Rigomar. (1976).
1565:. Also see his monograph
1487:Pierce, Benjamin (2020).
1058:results in pink flowers.
1040:Non-Mendelian inheritance
1034:Non-Mendelian inheritance
696:List of unsolved problems
1812:Human molecular genetics
1573:The Elements of Heredity
825:Genotype contributes to
691:List of research methods
21:Introduction to genetics
2014:Frizzell, M.A. (2013),
1773:"Mendelian Inheritance"
1636:A dictionary of zoology
1160:whole genome sequencing
1152:chromosomal microarrays
162:Response to environment
2387:Polymorphism (biology)
2016:"Incomplete Dominance"
1721:"3.6: Punnett Squares"
1514:Essential Cell Biology
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1068:ABO blood group system
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994:
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880:genotype and phenotype
681:List of biology awards
287:Biological engineering
1809:Strachan, T. (2018).
1411:Nucleic acid sequence
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327:Cellular microbiology
2367:Genetic nomenclature
1957:"Huntington Disease"
1593:Johannsen W (1905).
1567:Johannsen W (1905).
1379:Codominant encoding
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1115:commonly done using
1048:Incomplete dominance
714:Agricultural science
592:Reproductive biology
477:Mathematical biology
402:Evolutionary biology
352:Conservation biology
1857:. Genetic Alliance.
1756:. Genetic Alliance.
1365:Recessive encoding
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979:hereditary diseases
900:homozygous dominant
719:Biomedical sciences
377:Ecological genetics
29:Part of a series on
2223:Trends in Genetics
1906:Biology LibreTexts
1876:Biology LibreTexts
1725:Biology LibreTexts
1421:Sequence (biology)
1351:Dominant encoding
1337:Additive encoding
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1019:Huntington disease
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854:was coined by the
750:Biology portal
602:Structural biology
587:Relational biology
412:Generative biology
407:Freshwater biology
2294:978-1-4939-2553-7
2082:978-0-08-096156-9
2037:978-0-08-096156-9
1826:978-0-429-82747-1
1523:978-0-8153-4454-4
1498:978-1-319-29714-5
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1224:{\displaystyle a}
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862:Wilhelm Johannsen
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1326:{\textstyle aa}
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2137:(1): 277–293.
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1992:www.nature.com
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1245:{\textstyle A}
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1210:. We consider
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1038:Main article:
1035:
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972:Punnett square
945:Punnett square
933:Main article:
930:
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916:genetic marker
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840:complex traits
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92:Key components
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2061:"Codominance"
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2017:
2010:
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1603:on 2009-05-30
1602:
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1556:on 2009-05-30
1555:
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1401:Endophenotype
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1000:X chromosomes
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961:Gregor Mendel
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552:Phylogenetics
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312:Biotechnology
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307:Biostatistics
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2105:
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1991:
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1972:, retrieved
1961:GeneReviews®
1960:
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1935:
1910:. Retrieved
1908:. 2021-01-13
1905:
1880:. Retrieved
1878:. 2020-06-24
1875:
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1811:
1780:. Retrieved
1776:
1752:
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1727:. 2016-09-21
1724:
1715:
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1701:openstax.org
1700:
1691:
1680:. Retrieved
1676:
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1601:the original
1595:
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1554:the original
1542:
1538:
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1513:
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1482:
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1467:
1458:
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1443:
1434:
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1121:
1113:
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1083:
1065:
1053:
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1024:expressivity
1012:
996:
976:
969:
954:
924:
904:
893:
877:
851:
849:
824:
803:
801:
708:Applications
597:Sociobiology
577:Protistology
542:Photobiology
537:Pharmacology
527:Parasitology
522:Paleontology
502:Neuroscience
482:Microbiology
392:Epidemiology
362:Cytogenetics
322:Cell biology
302:Biosemiotics
292:Biomechanics
272:Biogeography
267:Biochemistry
262:Bacteriology
257:Astrobiology
169:
157:Reproduction
120:
47:
1547:German ed.
1148:karyotyping
1062:Codominance
1028:polydactyly
831:petal color
647:Xenobiology
642:Virophysics
612:Systematics
567:Primatology
512:Ornithology
452:Ichthyology
437:Herpetology
432:Gerontology
397:Epigenetics
357:Cryobiology
247:Agrostology
237:Aerobiology
232:Abiogenesis
98:Cell theory
2376:Categories
2300:2021-11-19
2111:2021-11-15
2088:2021-11-15
2043:2021-11-15
1997:2021-11-15
1974:2021-11-19
1941:2021-11-19
1912:2021-11-19
1882:2021-11-15
1835:1083018958
1782:2021-11-15
1777:Genome.gov
1731:2021-11-15
1706:2021-11-15
1682:2021-11-15
1607:2017-07-19
1560:2017-07-19
1473:2021-11-09
1468:Genome.gov
1464:"Genotype"
1449:2020-06-22
1427:References
1137:SNP arrays
1110:Genotyping
1104:Genotyping
1015:penetrance
918:, such as
844:epigenetic
820:homozygous
812:chromosome
632:Toxicology
627:Teratology
572:Proteomics
557:Physiology
497:Neontology
462:Lipidology
457:Immunology
427:Geobiology
387:Embryology
367:Dendrology
297:Biophysics
277:Biogeology
152:Regulation
132:Adaptation
2243:0168-9525
2151:0016-6731
1654:260204631
1581:cite book
1545:: 247–70.
1416:Phenotype
1260:Genotype
1080:Epistasis
1074:Epistasis
983:autosomal
957:Mendelian
949:pea plant
874:Phenotype
868:Phenotype
864:in 1903.
850:The term
835:pea plant
827:phenotype
672:Biologist
547:Phycology
532:Pathology
517:Osteology
507:Nutrition
467:Mammalogy
442:Histology
113:Phylogeny
108:Evolution
103:Ecosystem
2382:Genetics
2169:19279327
2131:Genetics
1969:20301482
1444:pged.org
1395:See also
1095:Polygene
965:dominant
859:botanist
852:genotype
804:genotype
763:Category
729:Pharming
666:Research
637:Virology
622:Taxonomy
562:Pomology
492:Mycology
422:Genomics
417:Genetics
242:Agronomy
224:Branches
211:Protists
190:Bacteria
175:Kingdoms
80:timeline
69:Glossary
2251:8533161
2204:2202589
2160:2674823
808:alleles
652:Zoology
382:Ecology
252:Anatomy
199:Animals
195:Eukarya
185:Archaea
177:of life
171:Domains
76:History
64:Outline
35:Biology
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816:ploidy
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317:Botany
207:Plants
142:Growth
1571:[
833:in a
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203:Fungi
147:Order
59:Index
2345:ISBN
2289:ISBN
2247:PMID
2239:ISSN
2200:OCLC
2190:ISBN
2165:PMID
2147:ISSN
2077:ISBN
2032:ISBN
1965:PMID
1831:OCLC
1821:ISBN
1650:OCLC
1640:ISBN
1587:link
1518:ISBN
1493:ISBN
1388:1,0
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1190:and
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123:life
2281:doi
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914:of
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