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Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation

Grouping variants based on gene mapping can augment the power of rare variant association tests. Weighting or sorting variants based on their expected functional impact can provide additional benefit. We defined groups of prioritized variants based on systematic annotation of Genetic Analysis Worksh...

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Detalhes bibliográficos
Main Authors: Nalpathamkalam, Thomas, Derkach, Andriy, Paterson, Andrew D, Merico, Daniele
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4143669/
https://ncbi.nlm.nih.gov/pubmed/25519362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1753-6561-8-S1-S11
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