Sunday 27 May 2012

Fwd: A new approach for detecting low-level mutations in next-generation sequence data.


1. Genome Biol. 2012 May 23;13(5):R34. [Epub ahead of print]

A new approach for detecting low-level mutations in next-generation sequence data.

Li M, Stoneking M.

Abstract

ABSTRACT: We propose a new method that incorporates population re-sequencing data, distribution of reads, and strand bias in detecting low-level mutations. The method can accurately identify low-level mutations down to a level of 2.3%, with an average coverage of 500x, and with a false discovery rate of less than 1%. In addition, we also discuss other problems in detecting low-level mutations, including chimeric reads and sample cross-contamination, and provide possible solutions to them.

PMID: 22621726 [PubMed - as supplied by publisher]
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