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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online: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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