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Article

Rare variant discovery and calling by sequencing pooled samples with overlaps.

Bioinformatics (Oxford, England) - 1 Jan 2013

Wang Wenhui, Yin Xiaolin, Soo Pyon Yoon, Hayes Matthew, Li Jing

Abstract excerpt

MOTIVATION: For many complex traits/diseases, it is believed that rare variants account for some of the missing heritability that cannot be explained by common variants. Sequencing a large number of samples through DNA pooling is a cost-effective strategy to discover rare variants and to investigate their associations with phenotypes. Overlapping pool designs provide further benefit because such approaches can...

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PMID: 23104896
DOI: 10.1093/bioinformatics/bts645
PMCID: PMC3530907

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