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Genome Med. 2015 Jul 29;7(1):78. doi: 10.1186/s13073-015-0200-0. eCollection 2015.

From genes to genomes in the clinic.

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Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA Nijmegen, The Netherlands ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 6229 ER Maastricht, The Netherlands.
Department of Molecular and Human Genetics, Department of Pediatrics, and Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030 USA ; Texas Children's Hospital, Houston, TX 77030 USA.


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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