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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Détails bibliographiques
Publié dans:N Engl J Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne: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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