Article
Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data.
Genes - 25 May 2020
Jiang Yu, Chen Sai, Wang Xingyan, Liu Mengzhen, Iacono William G, Hewitt John K, Hokanson John E, Krauter Kenneth, Laakso Markku, Li Kevin W, Lutz Sharon M, McGue Matthew, Pandit Anita, Zajac Gregory J M, Boehnke Michael, Abecasis Goncalo R, Vrieze Scott I, Jiang Bibo, Zhan Xiaowei, Liu Dajiang J
Abstract excerpt
There is great interest in understanding the impact of rare variants in human diseases using large sequence datasets. In deep sequence datasets of >10,000 samples, ~10% of the variant sites are observed to be multi-allelic. Many of the multi-allelic variants have been shown to be functional and disease-relevant. Proper analysis of multi-allelic variants is critical to the success of a sequencing study, but...
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