Ontology highlight
ABSTRACT:
SUBMITTER: Lawrence L
PROVIDER: S-EPMC4190001 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Lawrence Lauren L Sincan Murat M Markello Thomas T Adams David R DR Gill Fred F Godfrey Rena R Golas Gretchen G Groden Catherine C Landis Dennis D Nehrebecky Michele M Park Grace G Soldatos Ariane A Tifft Cynthia C Toro Camilo C Wahl Colleen C Wolfe Lynne L Gahl William A WA Boerkoel Cornelius F CF
Genetics in medicine : official journal of the American College of Medical Genetics 20140501 10
<h4>Purpose</h4>Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants.<h4>Methods</h4>Following the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings from next-generation sequencing, we extracted variants in 56 genes from the exome sequence data of 543 subjects and determined the reporta ...[more]