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Article

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.

Nature genetics - 1 Oct 2008

Korn Joshua M, Kuruvilla Finny G, McCarroll Steven A, Wysoker Alec, Nemesh James, Cawley Simon, Hubbell Earl, Veitch Jim, Collins Patrick J, Darvishi Katayoon, Lee Charles, Nizzari Marcia M, Gabriel Stacey B, Purcell Shaun, Daly Mark J, Altshuler David

Abstract excerpt

Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be required to understand the role of genetic variation in disease. We present Birdsuite, a four-stage analytical framework instantiated in software for deriving integrated and...

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Identifiers

PMID: 18776909
DOI: 10.1038/ng.237
PMCID: PMC2756534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18776909-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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