publication . Article . Other literature type . 2017

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

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

Laura Lyman Rodriguez; Carol J. Bult; Teri A. Manolio; Cathleen Lutz; Gregory M. Cooper; Peter N. Robinson; Nancy J. Cox; Barbara E. Stranger; Howard L. McLeod; Leslie G. Biesecker; ...

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Open Access

Published: 23 Mar 2017

Summary
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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.

doi: 10.1016/j.cell.2017.03.005

pmid: 28340351

pmc: PMC5511379

Subjects

free text keywords: Article, DNA sequencing, Data sharing, Functional studies, Phenotype, Bioinformatics, Genetic variants, Computational biology, Gene, Genomic research, Biology, Disease causation

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