Article
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Human mutation - 1 Mar 2016
Campbell Ian M, Gambin Tomasz, Jhangiani Shalini, Grove Megan L, Veeraraghavan Narayanan, Muzny Donna M, Shaw Chad A, Gibbs Richard A, Boerwinkle Eric, Yu Fuli, Lupski James R
Abstract excerpt
As the amount of human genomic sequence available from personal genomes and exomes has increased, so too has the observation of genomic positions having two or more alternative alleles, so-called multiallelic sites. For portions of the haploid genome that are present in more than one copy, including segmental duplications, variation at such multisite variant positions becomes even more complex. Despite the...
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