Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
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DOI：
10.1002/humu.22944
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发表时间：
2016-03
期刊：
影响因子：
3.9
通讯作者：
Lupski JR
中科院分区：
文献类型：
--
作者：
Campbell IM;Gambin T;Jhangiani S;Grove ML;Veeraraghavan N;Muzny DM;Shaw CA;Gibbs RA;Boerwinkle E;Yu F;Lupski JR
随着可从个人基因组和外显子组获得的人类基因组序列的量增加，观察到具有两个或更多个替代等位基因（所谓的多等位基因位点）的基因组位置也增加了。对于以多于一个拷贝存在的单倍体基因组的部分，包括片段性重复，在这样的多位点变体位置处的变异变得甚至更复杂。尽管多等位基因变体的频率，但基因组研究和诊断中的许多常用资源和工具并不支持这些多等位基因变体或需要特殊修饰。在这里，我们探讨了多等位基因位点的频率在大样本与全外显子组测序，并讨论了潜在的结果，未能占多个变异等位基因。我们还简要讨论了一些常用的资源，完全支持多等位基因网站。
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.