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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
Author(s) -
Campbell Ian M.,
Gambin Tomasz,
Jhangiani Shalini N.,
Grove Megan L.,
Veeraraghavan Narayanan,
Muzny Donna M.,
Shaw Chad A.,
Gibbs Richard A.,
Boerwinkle Eric,
Yu Fuli,
Lupski James R.
Publication year - 2016
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22944
Subject(s) - biology , exome sequencing , genome , exome , genetics , human genome , evolutionary biology , computational biology , genomics , allele , structural variation , mutation , gene
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 frequency of multiallelic variants, a number of commonly used resources and tools in genomic research and diagnostics do not support these multiallelic variants all together or require special modifications. Here, we explore the frequency of multiallelic sites in large samples with whole exome sequencing and discuss potential outcomes of failing to account for multiple variant alleles. We also briefly discuss some commonly utilized resources that fully support multiallelic sites.