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From genes to genomes in the clinic

28 Jul 2015

Abstract excerpt

Next-generation sequencing is revolutionizing medical genetics and in the near future will pervade all medical fields. To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vital.

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PMID: 26221187
DOI: 10.1186/s13073-015-0200-0

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