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Article

Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level.

PLoS computational biology - 1 Jun 2016

Jeng Xinge Jessie, Daye Zhongyin John, Lu Wenbin, Tzeng Jung-Ying

Abstract excerpt

Genetic association analyses of rare variants in next-generation sequencing (NGS) studies are fundamentally challenging due to the presence of a very large number of candidate variants at extremely low minor allele frequencies. Recent developments often focus on pooling multiple variants to provide association analysis at the gene instead of the locus level. Nonetheless, pinpointing individual variants is a...

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PMID: 27355347
DOI: 10.1371/journal.pcbi.1004993
PMCID: PMC4927097

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