Cell. 2017 Mar 23;169(1):6-12. doi: 10.1016/j.cell.2017.03.005.


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.

PMID:28340351 | PMC:PMC5511379 | DOI:10.1016/j.cell.2017.03.005

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