Genomic diagnostics within a medically underserved population: efficacy and implications.

doi:10.1038/gim.2017.76

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Article

Genomic diagnostics within a medically underserved population: efficacy and implications.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018

Strauss Kevin A, Gonzaga-Jauregui Claudia, Brigatti Karlla W, Williams Katie B, King Alejandra K, Van Hout Cristopher, Robinson Donna L, Young Millie, Praveen Kavita, Heaps Adam D, Kuebler Mindy, Baras Aris, Reid Jeffrey G, Overton John D, Dewey Frederick E, Jinks Robert N, Finnegan Ian, Mellis Scott J, Shuldiner Alan R, Puffenberger Erik G

Abstract excerpt

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...

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PMID: 28726809
DOI: 10.1038/gim.2017.76

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