Published in

BioMed Central, Genome Biology, 9(12), p. R93

DOI: 10.1186/gb-2011-12-9-r93

BioMed Central, Genome Biology, Suppl 1(12), p. P45

DOI: 10.1186/gb-2011-12-s1-p45

BioMed Central, Genome Biology, Suppl 1(12), p. P45

DOI: 10.1186/1465-6906-12-s1-p45

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Effective detection of rare variants in pooled DNA samples using cross-pool tail-curve analysis

Journal article published in 2011 by Tejasvi S. Niranjan, Abby Adamczyk, Hector Corrada Bravo, Margaret A. Taub, Sarah J. Wheelan, Rafael Irizarry, Tao Wang
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Sequencing targeted DNA regions in large samples is necessary to discover the full spectrum of rare variants. We report an effective Illumina sequencing strategy utilizing pooled samples with novel quality (Srfim) and filtering (SERVIC4E) algorithms. We sequenced 24 exons in two cohorts of 480 samples each, identifying 47 coding variants, including 30 present once per cohort. Validation by Sanger sequencing revealed an excellent combination of sensitivity and specificity for variant detection in pooled samples of both cohorts as compared to publicly available algorithms.