publication . Other literature type . Article . 2017

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

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; ...
Open Access English
  • Published: 01 Mar 2017
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.
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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