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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Autores principales: 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
Lenguaje:Inglês
Publicado: 2014
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Article
Acceso en línea: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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