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Article

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

Genome biology - 28 Sept 2011

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

Abstract excerpt

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...

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Identifiers

PMID: 21955804
DOI: 10.1186/gb-2011-12-9-r93
PMCID: PMC3308056

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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