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REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY

There are now hundreds of thousands of pathogenicity assertions that relate genetic variation to disease, but most of this clinically utilized variation has no accepted quantitative disease risk estimate. Recent disease-specific studies have used control sequence data to reclassify large amounts of...

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Detalhes bibliográficos
Publicado no:Pac Symp Biocomput
Main Authors: Manrai, Arjun K, Wang, Brice L, Patel, Chirag J, Kohane, Isaac S
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4720982/
https://ncbi.nlm.nih.gov/pubmed/26776189
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