Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
Ian M. Campbell , Tomasz Gambin , Shalini N. Jhangiani , Megan L. Grove , Narayanan Veeraraghavan , Donna M. Muzny , Chad Shaw , Richard A. Gibbs , Eric Boerwinkle , Fuli Yu , Megan L. Grove
AbstractAs 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.
|Journal series||Human Mutation, ISSN 1059-7794|
|Publication size in sheets||0.5|
|Score|| = 40.0, 27-03-2017, ArticleFromJournal|
= 40.0, 27-03-2017, ArticleFromJournal
|Publication indicators||: 2016 = 4.601 (2) - 2016=4.809 (5)|
|Citation count*||2 (2018-02-16)|
* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.