Genomic diagnostics within a medically underserved population: efficacy and implications
Abstract
PurposeWe integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.MethodsSeventy-nine probands (newborn to 49.8 years) who presented between 1998 and 2015 remained undiagnosed after biochemical and molecular investigations. We generated WES data for probands and family members and vetted variants through rephenotyping, segregation analyses,...
Paper Details
Title
Genomic diagnostics within a medically underserved population: efficacy and implications
Published Date
Jan 1, 2018
Journal
Volume
20
Issue
1
Pages
31 - 41
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