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woensdag 28 februari 2018

Latest content from npj Genomic Medicine: 28 February 2018

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npj Genomic Medicine

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npj Genomic Medicine is an open access journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. Part of the Nature Partner Journals series, the journal is published in partnership with the Center of Excellence in Genomic Medicine Research. All content from the journal is now included in PubMed Central and PubMed.
 

Table of Contents: February 2018

Article | 15 February 2018

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

Amanda Ewart Toland, Andrea Forman, Fergus J. Couch, Julie O. Culver, Diana M. Eccles et al.

npj Genomic Medicine 3 , Article number: 7 |  doi: 10.1038/s41525-018-0046-7

Article | 09 February 2018

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Josh E. Petrikin, Julie A. Cakici, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney et al.

npj Genomic Medicine 3 , Article number: 6 |  doi: 10.1038/s41525-018-0045-8

Article | 05 February 2018

A phenotype centric benchmark of variant prioritisation tools

Denise Anderson & Timo Lassmann

npj Genomic Medicine 3 , Article number: 5 |  doi: 10.1038/s41525-018-0044-9

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