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

• Published in: Frontiers in genetics Vol. 6; p. 244
• 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: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 24.07.2015
• Subjects: EMR; Exome; Genotype; OMIM; Pediatrics; phenotype; Sequencing; phenotype; exome; HGMD; OMIM; EMR; genotype; sequencing

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...