15-20X Coverage for Singletons

[PMID:28640830] [PLoS Genetics]

Optimal sequencing strategies for identifying disease-associated singletons

“We show that the power to detect singletons increases with coverage, typically plateauing for coverage > ~25x. Next, we show that, when total sequencing capacity is fixed, the power of association studies focused on singletons is typically maximized for coverage of 15-20x, independent of relative risk, disease prevalence, singleton burden, and case-control ratio. Our results suggest sequencing depth of 15-20x as an appropriate compromise of singleton detection power and sample size for studies of rare variants in complex disease.” Work from Abecasis.


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