Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
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.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: manolio@nih.gov.
Teri A
TA
Manolio
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Douglas M
DM
Fowler
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Lea M
LM
Starita
Department of Medical Informatics and Clinical Epidemiology, Oregon Health and Science University, Portland, OR 97239, USA.
Melissa A
MA
Haendel
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Daniel G
DG
MacArthur
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Leslie G
LG
Biesecker
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Elizabeth
E
Worthey
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Rex L
RL
Chisholm
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Eric D
ED
Green
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Howard J
HJ
Jacob
DeBartolo Family Personalized Medicine Institute, Moffitt Cancer Center, Tampa, FL 33612, USA.
Howard L
HL
McLeod
Department of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
Dan
D
Roden
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Laura Lyman
LL
Rodriguez
Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
Marc S
MS
Williams
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Gregory M
GM
Cooper
Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN 37203, USA.
Nancy J
NJ
Cox
Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Gail E
GE
Herman
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.
Stephen
S
Kingsmore
Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 1526, USA.
Cecilia
C
Lo
Rare and Orphan Disease Center, Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Cathleen
C
Lutz
Divisions of Cardiovascular Medicine, Network Medicine and Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.
Calum A
CA
MacRae
Invitae Genetics Information and Testing Company, San Francisco, CA 94107, USA.
Robert L
RL
Nussbaum
JM-USDA-Human Nutrition Research Center on Aging, Tufts University, Boston, MA 02111, USA.
Jose M
JM
Ordovas
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Erin M
EM
Ramos
The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Peter N
PN
Robinson
National Center for Biotechnology Information, National Library of Medicine, NIH, Bethesda, MD 20892, USA.
Wendy S
WS
Rubinstein
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Christine
C
Seidman
Section of Genetic Medicine, Department of Medicine, Institute for Genomics and Systems Biology, Center for Data Intensive Science, University of Chicago, Chicago, IL 60637, USA.
Barbara E
BE
Stranger
The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Haoyi
H
Wang
Department of Biology, University of Oregon, Portland, OR 97403, USA.
Monte
M
Westerfield
The Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Carol
C
Bult
D000818:Animals; D035843:Biomedical Research; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D004194:Disease / Q000235:genetics; D023281:Genomics; D016045:Human Genome Project; D006801:Humans; D033181:Information Dissemination; D023421:Models, Animal