Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.
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ABSTRACT:
SUBMITTER: Niranjan TS
PROVIDER: S-EPMC3308056 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Publications
Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis.
Niranjan Tejasvi S TS Adamczyk Abby A Bravo Héctor Corrada HC Taub Margaret A MA Wheelan Sarah J SJ Irizarry Rafael R Wang Tao T
Genome biology 20110928 9
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 ...[more]
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