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

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.

SUBMITTER: Manolio TA

PROVIDER: S-EPMC5511379 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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

Manolio Teri A TA Fowler Douglas M DM Starita Lea M LM Haendel Melissa A MA MacArthur Daniel G DG Biesecker Leslie G LG Worthey Elizabeth E Chisholm Rex L RL Green Eric D ED Jacob Howard J HJ McLeod Howard L HL Roden Dan D Rodriguez Laura Lyman LL Williams Marc S MS Cooper Gregory M GM Cox Nancy J NJ Herman Gail E GE Kingsmore Stephen S Lo Cecilia C Lutz Cathleen C MacRae Calum A CA Nussbaum Robert L RL Ordovas Jose M JM Ramos Erin M EM Robinson Peter N PN Rubinstein Wendy S WS Seidman Christine C Stranger Barbara E BE Wang Haoyi H Westerfield Monte M Bult Carol C

Cell 20170301 1

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. ...[more]

PMID: 28340351

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