Clinical Interpretation and Implications of Whole-Genome Sequencing

IMPORTANCE: Whole-genome sequencing (WGS) is increasingly applied in clinical medicine and is expected to uncover clinically significant findings regardless of sequencing indication. OBJECTIVES: To examine coverage and concordance of clinically relevant genetic variation provided by WGS technologies...

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Detalhes bibliográficos
Main Authors: Dewey, Frederick E., Grove, Megan E., Pan, Cuiping, Goldstein, Benjamin A., Bernstein, Jonathan A., Chaib, Hassan, Merker, Jason D., Goldfeder, Rachel L., Enns, Gregory M., David, Sean P., Pakdaman, Neda, Ormond, Kelly E., Caleshu, Colleen, Kingham, Kerry, Klein, Teri E., Whirl-Carrillo, Michelle, Sakamoto, Kenneth, Wheeler, Matthew T., Butte, Atul J., Ford, James M., Boxer, Linda, Ioannidis, John P. A., Yeung, Alan C., Altman, Russ B., Assimes, Themistocles L., Snyder, Michael, Ashley, Euan A., Quertermous, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4119063/
https://ncbi.nlm.nih.gov/pubmed/24618965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jama.2014.1717
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