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59:. The authors classified the variants found in the study in three classes according to their MAF. It was observed that rare variants (MAF < 0.05) appeared more frequently in coding regions than common variants (MAF > 0.05) in this population.
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studies because it provides information to differentiate between common and rare variants in the population. As an example, a 2015 study sequenced the whole
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313:"Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers"
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Hernandez, Ryan D.; Uricchio, Lawrence H.; Hartman, Kevin; Ye, Chun; Dahl, Andrew; Zaitlen, Noah (September 2019).
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is the number of times this SNP has been observed in the population of the study. To find the number, note that
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since MAF variants which occur only once, known as "singletons", drive an enormous amount of selection.
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is the frequency of the C allele (MAF), i.e. 15% within the 1000 Genomes database; and
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40:(SNPs) with a minor allele frequency of 0.05 (5%) or greater were targeted by the
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84:(1000 Genomes, where number of genomes sampled = N = 2504); where
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Introduce the reference of a SNP of interest, as an example:
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occurs in a given population. They play a surprising role in
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134:{\displaystyle 0.1506={\frac {754}{2\times 2504}}}
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374:National Center for Biotechnology Information:
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359:: CS1 maint: multiple names: authors list (
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88:is the minor allele for that particular
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256:"A haplotype map of the human genome"
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311:Sidore, C., y colaboradores (2015).
408:. You can help Knowledge (XXG) by
82:MAF/MinorAlleleCount: C=0.1506/754
74:, in a database (dbSNP or other).
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80:Find MAF/MinorAlleleCount link.
23:) is the frequency at which the
38:Single nucleotide polymorphisms
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215:10.1038/s41588-019-0487-7
157:{\displaystyle 2\times }
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47:MAF is widely used in
17:Minor allele frequency
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63:Interpreting MAF data
57:Sardinian individuals
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280:10.1038/nature04226
272:2005Natur.437.1299T
266:(7063): 1299–1320.
49:population genetics
455:Classical genetics
376:New SNP Attributes
164:is to account for
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25:second most common
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323:(11): 1272–1281.
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209:(9): 1349–1355.
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32:heritability
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152:×
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55:of 2,120
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402:genetics
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172:See also
166:diploidy
141:, where
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268:Bibcode
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53:genomes
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260:Nature
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28:allele
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361:link
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237:PMID
219:ISSN
126:2504
333:PMC
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