Lessons learned from additional research analyses of unsolved clinical exome cases.

ABSTRACT:

Background

Given the rarity of most single-gene Mendelian disorders, concerted efforts of data exchange between clinical and scientific communities are critical to optimize molecular diagnosis and novel disease gene discovery.

Methods

We designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e. unsolved clinical exomes). Such cases were recruited to a research laboratory for further analyses, in order to potentially: (1) accelerate novel disease gene discovery; (2) increase the molecular diagnostic yield of whole exome sequencing (WES); and (3) gain insight into the genetic mechanisms of disease. Pilot project data included 74 families, consisting mostly of parent-of

SUBMITTER: Eldomery MK 

PROVIDER: S-EPMC5361813 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature