Review paper
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
Abstract
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program...
Paper Details
Title
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
Published Date
Aug 13, 2018
Journal
Volume
3
Issue
1
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