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woensdag 31 januari 2018

Latest content from npj Genomic Medicine: 31 January 2018

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npj Genomic Medicine

Now included in PubMed Central 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: January 2018

Article | 29 January 2018

Whole-genome transcriptomic insights into protective molecular mechanisms in metabolically healthy obese African Americans

Amadou Gaye, Ayo P. Doumatey, Sharon K. Davis, Charles N. Rotimi & Gary H. Gibbons

npj Genomic Medicine 3 , Article number: 4 |  doi: 10.1038/s41525-018-0043-x

Case Report | 22 January 2018

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Jennifer Reiner, Laura Pisani, Wanqiong Qiao, Ram Singh, Yao Yang et al.

npj Genomic Medicine 3 , Article number: 3 |  doi: 10.1038/s41525-017-0042-3

Article | 15 January 2018

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples

Austin P. So, Anna Vilborg, Yosr Bouhlal, Ryan T. Koehler, Susan M. Grimes et al.

npj Genomic Medicine 3 , Article number: 2 |  doi: 10.1038/s41525-017-0041-4

Article | 11 January 2018

Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival

Henrik Hornshøj, Morten Muhlig Nielsen, Nicholas A. Sinnott-Armstrong, Michal P. Switnicki, Malene Juul et al.

npj Genomic Medicine 3 , Article number: 1 |  doi: 10.1038/s41525-017-0040-5


Speeding up the sequencing

In the age of genomic big data, the worlds of medicine and IT are rapidly colliding. 

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