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How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples

Whole exome sequencing (WES) is increasingly being used for diagnosis without adequate information on predictive characteristics of reportable variants typically found on any given individual and correlation with clinical phenotype. In this study, we performed WES on 89 deceased individuals (mean ag...

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Detalles Bibliográficos
Autores principales:	Middha, Sumit, Lindor, Noralane M., McDonnell, Shannon K., Olson, Janet E., Johnson, Kiley J., Wieben, Eric D., Farrugia, Gianrico, Cerhan, James R., Thibodeau, Stephen N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2015
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513238/ https://www.ncbi.nlm.nih.gov/pubmed/26257771 http://dx.doi.org/10.3389/fgene.2015.00244

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