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A statistical method for the detection of variants from next-generation resequencing of DNA pools

By Vikas Bansal

Abstract

Motivation: Next-generation sequencing technologies have enabled the sequencing of several human genomes in their entirety. However, the routine resequencing of complete genomes remains infeasible. The massive capacity of next-generation sequencers can be harnessed for sequencing specific genomic regions in hundreds to thousands of individuals. Sequencing-based association studies are currently limited by the low level of multiplexing offered by sequencing platforms. Pooled sequencing represents a cost-effective approach for studying rare variants in large populations. To utilize the power of DNA pooling, it is important to accurately identify sequence variants from pooled sequencing data. Detection of rare variants from pooled sequencing represents a different challenge than detection of variants from individual sequencing

Topics: Ismb 2010 Conference Proceedings July 11 to July 13, 2010, Boston, Ma, Usa
Publisher: Oxford University Press
OAI identifier: oai:pubmedcentral.nih.gov:2881398
Provided by: PubMed Central

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