[HTML][HTML] Genomic diagnostics within a medically underserved population: efficacy and implications
KA Strauss, C Gonzaga-Jauregui, KW Brigatti… - Genetics in …, 2018 - Elsevier
Purpose We integrated whole-exome sequencing (WES) and chromosomal microarray
analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian
community. Methods Seventy-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, and population studies. Results The …
analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian
community. Methods Seventy-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, and population studies. Results The …