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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

BACKGROUND: Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes. METHODS: We conducted a retrospective analysis of data from a series of 7374 consecutive unrelated patients who had been referred to a clinical diagnostic labor...

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書誌詳細
出版年:N Engl J Med
主要な著者: Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Muzny, Donna M., Gibbs, Richard A., Boerwinkle, Eric, Eng, Christine M., Sutton, V. Reid, Shaw, Chad A., Plon, Sharon E., Yang, Yaping, Lupski, James R.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5335876/
https://ncbi.nlm.nih.gov/pubmed/27959697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1516767
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