Computer Science Research Works

Permanent URI for this collectionhttp://hdl.handle.net/1903/1593

Browse

Filter results by typing the first few letters
Now showing 1 - 1 of 1
  • Thumbnail Image
    Item
    Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis
    (Springer Nature, 2011-09-28) Niranjan, Tejasvi S; Adamczyk, Abby; Bravo, Héctor Corrada; Taub, Margaret A; Wheelan, Sarah J; Irizarry, Rafael; Wang, Tao
    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.