Article
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019
Shashi Vandana, Schoch Kelly, Spillmann Rebecca, Cope Heidi, Tan Queenie K-G, Walley Nicole, Pena Loren, McConkie-Rosell Allyn, Jiang Yong-Hui, Stong Nicholas, Need Anna C, Goldstein David B
Abstract excerpt
PURPOSE: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10-15% of the ES negatives, further approaches are necessary to maximize diagnoses in these individuals. METHODS: In 38 ES negative patients an individualized genomic-phenotypic approach was employed utilizing (1) phenotyping; (2)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.