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

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 LutzCalum 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

Research output: Contribution to journalComment/debatepeer-review

62 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)6-12
Number of pages7
JournalCell
Volume169
Issue number1
DOIs
StatePublished - Mar 23 2017

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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