Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

ABSTRACT:

Background

In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary "Genome Clinic Task Force" at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator.

Methods and results

We have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final repor

SUBMITTER: Fokstuen S 

PROVIDER: S-EPMC4924303 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature