Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

ABSTRACT: Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.

SUBMITTER: Manolio TA 

PROVIDER: S-EPMC5511379 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature