Open AccessBedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
Author(s) -
Teri A. Manolio,
Douglas M. Fowler,
Lea M. Starita,
Melissa Haendel,
Daniel G. MacArthur,
Leslie G. Biesecker,
Elizabeth A. Worthey,
Rex L. Chisholm,
Eric D. Green,
Howard J. Jacob,
Howard L. McLeod,
Dan M. Roden,
Laura Lyman Rodriguez,
Marc S. Williams,
Gregory M. Cooper,
Nancy J. Cox,
Gail E. Herman,
Stephen F. Kingsmore,
Cecilia Lo,
Cathleen Lutz,
Calum A. MacRae,
Robert L. Nussbaum,
José M. Ordovás,
Erin M. Ramos,
Peter N. Robinson,
Wendy S. Rubinstein,
Christine E. Seidman,
Barbara E. Stranger,
Haoyi Wang,
Monte Westerfield,
Carol J. Bult
Publication year - 2017
Publication title -
cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 26.304
H-Index - 776
eISSN - 1097-4172
pISSN - 0092-8674
DOI - 10.1016/j.cell.2017.03.005
Subject(s) - biology , computational biology , phenotype , genetics , genome , genomics , disease , causation , data sharing , clinical phenotype , bioinformatics , gene , political science , medicine , alternative medicine , pathology , law
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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