The September issue of Genome Medicine: Annotate-it, de novo mutations in neurological and psyquiatric diseases, epigenomics of ulcerative colitis, and more

The SeptemberissueofGenome Medicineopens with two research highlights discussing recent articles providing novel insights into the pathophysiology and treatment of chronic obstructive pulmonary disease and ulcerative colitis, inflammatory conditions with increasing incidence worldwide.

On the topic of chronic obstructive pulmonary disease, Silke Meiners andOliver Eickelbergdiscuss a researcharticlepublished in the August issue of Genome Medicine,emphasizinghow the pioneering database-driven drug discovery approach used in this study may be useful in finding more efficient therapies for chronic lung diseases in general. In thearticleon ulcerative colitis,Eamonn Quigleydiscusses a recent epigenome-wide association study byPhilip Rosenstieland colleagues, highlighting how it provides the first clues to understanding ulcerative colitis cases that are unexplained by genetic variation, opening the way to epigenetic-targeted therapies.

In areviewarticle, Julie Gauthier andGuy Rouleauprovide an overview of the role ofde novomutations in neurological and psychiatric disorders and their impact on clinical management. The issue also includes ameeting reporton the13thInternational Conference on Systems Biology, in which Adam Rosenbrock andAmy Caudy选择一个范围在系统生物学的一个热门话题d genomic medicine, including personal genomes and studies in model organisms.

These commissioned articles are followed by a report on Annotate-it, newsoftwarethat identifies causal variants from patient’s sequencing data under diverse genetic hypotheses. Subsequently, the researcharticlebyWyeth Wassermanand co-workers demonstrates how text analysis can predict novel relationships between genes and diseases, using Medical Subject Heading Overrepresentation profiles, using amethodrecently reported inBMC Bioinformatics.

Look out for October’s issue ofGenome Medicine, which will include a review on usage of copy number information in the clinic and research into cancer stem cells and the skin microbiome.

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