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Article

Quality control issues and the identification of rare functional variants with next-generation sequencing data.

Genetic epidemiology - 1 Jan 2011

Hemmelmann Claudia, Daw E Warwick, Wilson Alexander F

Abstract excerpt

Next-generation sequencing of large numbers of individuals presents challenges in data preparation, quality control, and statistical analysis because of the rarity of the variants. The Genetic Analysis Workshop 17 (GAW17) data provide an opportunity to survey existing methods and compare these methods with novel ones. Specifically, the GAW17 Group 2 contributors investigate existing and newly proposed methods and...

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Identifiers

PMID: 22128054
DOI: 10.1002/gepi.20645
PMCID: PMC3268158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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