Genomic diagnostics within a medically underserved population: efficacy and implications
Genomic diagnostics within a medically underserved population: efficacy and implications
About this item
Full title
Author / Creator
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. and Puffenberger, Erik G.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
We integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.
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 proba...
Alternative Titles
Full title
Genomic diagnostics within a medically underserved population: efficacy and implications
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1921133445
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1921133445
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2017.76
