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Article

Rare variant association testing under low-coverage sequencing.

Genetics - 1 Jul 2013

Navon Oron, Sul Jae Hoon, Han Buhm, Conde Lucia, Bracci Paige M, Riby Jacques, Skibola Christine F, Eskin Eleazar, Halperin Eran

Abstract excerpt

Deep sequencing technologies enable the study of the effects of rare variants in disease risk. While methods have been developed to increase statistical power for detection of such effects, detecting subtle associations requires studies with hundreds or thousands of individuals, which is prohibitively costly. Recently, low-coverage sequencing has been shown to effectively reduce the cost of genome-wide...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23636738
DOI: 10.1534/genetics.113.150169
PMCID: PMC3697979

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