Prioritizing disease-linked variants, genes, and pathways with an interactive whole genome analysis pipeline

Whole genome sequencing (WGS) studies are uncovering disease-associated variants in both rare and non-rare diseases. Utilizing the next-generation sequencing for WGS requires a series of computational methods for alignment, variant detection, and annotation, and the accuracy and reproducibility of a...

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Detalhes bibliográficos
Main Authors: Lee, In-Hee, Lee, Kyungjoon, Hsing, Michael, Choe, Yongjoon, Park, Jin-Ho, Kim, Shu Hee, Bohn, Justin M., Neu, Matthew B., Hwang, Kyu-Baek, Green, Robert C., Kohane, Isaac S., Kong, Sek Won
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4130156/
https://ncbi.nlm.nih.gov/pubmed/24478219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22520
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