Title

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

Document Type

Article

Publication Date

3-23-2017

JAX Source

Cell 2017 Mar 23; 169(1):6-12

PMID

28340351

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.

Cell 2017 Mar 23; 169(1):6-12.