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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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Detalles Bibliográficos
Autores principales:	Nalpathamkalam, Thomas, Derkach, Andriy, Paterson, Andrew D, Merico, Daniele
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Proceedings
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143669/ https://www.ncbi.nlm.nih.gov/pubmed/25519362 http://dx.doi.org/10.1186/1753-6561-8-S1-S11

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