Minor allele frequency (MAF) is the frequency at which the second most common allele occurs in a given population. They play a surprising role in heritability since MAF variants which occur only once, known as "singletons", drive an enormous amount of selection.[1]
Single nucleotide polymorphisms (SNPs) with a minor allele frequency of 0.05 (5%) or greater were targeted by the HapMap project.[2]
MAF is widely used in population genetics studies because it provides information to differentiate between common and rare variants in the population.
As an example, a 2015 study sequenced the whole genomes of 2,120 Sardinian individuals. 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.[3]
^Hernandez, Ryan D.; Uricchio, Lawrence H.; Hartman, Kevin; Ye, Chun; Dahl, Andrew; Zaitlen, Noah (September 2019). "Ultrarare variants drive substantial cis heritability of human gene expression". Nature Genetics. 51 (9): 1349–1355. doi:10.1038/s41588-019-0487-7. ISSN 1546-1718. PMC 6730564. PMID 31477931.
^The International HapMap Consortium (2005). "A haplotype map of the human genome". Nature. 437 (7063): 1299–1320. Bibcode:2005Natur.437.1299T. doi:10.1038/nature04226. PMC 1880871. PMID 16255080.
^Sidore, C., y colaboradores (2015). "Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers". Nature Genetics. 47 (11): 1272–1281. doi:10.1038/ng.3368. PMC 4627508. PMID 26366554.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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