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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主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2014
主題:
Article
オンライン･アクセス: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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