Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

ABSTRACT: Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype and genotypic data to prioritise variants as potentially causal. Some methods have a clinical focus while others are more research-oriented. With clinical applications in mind we compare results from alternative methods using 21 exomes for which the disease causal variant has been previously established through traditional clinical evaluation. In this case series we find that the PhenIX program is the most effective, ranking the true causal variant at between 1 and 10 in 85% of these cases. This i

SUBMITTER: Pengelly RJ 

PROVIDER: S-EPMC5647373 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature