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

Publication date: 23 March 2017
Source:Cell, Volume 169, Issue 1
Author(s): Teri A. Manolio, Douglas M. Fowler, Lea M. Starita, Melissa A. Haendel, Daniel G. MacArthur, Leslie G. Biesecker, Elizabeth Worthey, Rex L. Chisholm, Eric D. Green, Howard J. Jacob, Howard L. McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S. Williams, Gregory M. Cooper, Nancy J. Cox, Gail E. Herman, Stephen Kingsmore, Cecilia Lo, Cathleen Lutz, Calum A. MacRae, Robert L. Nussbaum, Jose M. Ordovas, Erin M. Ramos, Peter N. Robinson, Wendy S. Rubinstein, Christine Seidman, Barbara E. Stranger, Haoyi Wang, Monte Westerfield, Carol Bult
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.

Teaser

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.


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