Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.
Cell
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| 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. |
| Year of Publication | 2017
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| Journal | Cell
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| Volume | 169
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| Issue | 1
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| Pages | 6-12
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| Date Published | 2017 Mar 23
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| ISSN | 1097-4172
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| DOI | 10.1016/j.cell.2017.03.005
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| PubMed ID | 28340351
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| PubMed Central ID | PMC5511379
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| Grant list | R24 GM115277 / GM / NIGMS NIH HHS / United States
R01 GM109110 / GM / NIGMS NIH HHS / United States
Z99 HG999999 / Intramural NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
U01 HG007943 / HG / NHGRI NIH HHS / United States
UM1 HG007301 / HG / NHGRI NIH HHS / United States
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