Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis

Tejasvi S. Niranjan, Abby Adamczyk, Héctor C. Bravo, Margaret A. Taub, Sarah J. Wheelan, Rafael Irizarry, Tao Wang

Research output: Contribution to journalArticlepeer-review

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 (SERVIC 4E) 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.

Original languageEnglish (US)
Article numberR93
JournalGenome biology
Volume12
Issue number9
DOIs
StatePublished - Sep 28 2011

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology

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