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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Bibliografske podrobnosti
izdano v:Front Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2015
Teme:
Pediatrics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4513238/
https://ncbi.nlm.nih.gov/pubmed/26257771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00244
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