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

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 mut...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756534/
https://ncbi.nlm.nih.gov/pubmed/18776909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.237
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