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

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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Bibliographic Details
Main Authors: Sumit eMiddha, Noralane M Lindor, Shannon K McDonnell, Janet E Olson, Kiley J Johnson, Eric D Wieben, Gianrico eFarrugia, James R Cerhan, Stephen N Thibodeau
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-07-01
Series:Frontiers in Genetics
Subjects:
Exome
Sequencing
phenotype
Genotype
EMR
OMIM
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00244/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00244/full

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