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Article

Enriching targeted sequencing experiments for rare disease alleles.

Bioinformatics (Oxford, England) - 1 Aug 2011

Edwards Todd L, Song Zhuo, Li Chun

Abstract excerpt

MOTIVATION: Next-generation targeted resequencing of genome-wide association study (GWAS)-associated genomic regions is a common approach for follow-up of indirect association of common alleles. However, it is prohibitively expensive to sequence all the samples from a well-powered GWAS study with sufficient depth of coverage to accurately call rare genotypes. As a result, many studies may use next-generation...

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PMID: 21700677
DOI: 10.1093/bioinformatics/btr324
PMCID: PMC3137214

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