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 employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding g

SUBMITTER: Haghighi A 

PROVIDER: S-EPMC6089983 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature