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

Academic Article

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.
  • Published In

  • Cell  Journal
  • Digital Object Identifier (doi)

    Author List

  • Manolio TA; Fowler DM; Starita LM; Haendel MA; MacArthur DG; Biesecker LG; Worthey E; Chisholm RL; Green ED; Jacob HJ
  • Start Page

  • 6
  • End Page

  • 12
  • Volume

  • 169
  • Issue

  • 1