High-frequency actionable pathogenic exome variants in an average-risk cohort

Exome sequencing is increasingly utilized in both clinical and nonclinical settings, but little is known about its utility in healthy individuals. Most previous studies on this topic have examined a small subset of genes known to be implicated in human disease and/or have used automated pipelines to...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Rego, Shannon, Dagan-Rosenfeld, Orit, Zhou, Wenyu, Sailani, M. Reza, Limcaoco, Patricia, Colbert, Elizabeth, Avina, Monika, Wheeler, Jessica, Craig, Colleen, Salins, Denis, Röst, Hannes L., Dunn, Jessilyn, McLaughlin, Tracey, Steinmetz, Lars M., Bernstein, Jonathan A., Snyder, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6318774/
https://ncbi.nlm.nih.gov/pubmed/30487145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003178
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