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

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The September issue of Genome Medicine opens 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 and Oliver Eickelberg discuss a research article published in the August issue of Genome Medicine, emphasizing how 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 the article on ulcerative colitis, Eamonn Quigley discusses a recent epigenome-wide association study by Philip Rosenstiel and 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 a review article, Julie Gauthier and Guy Rouleau provide an overview of the role of de novo mutations in neurological and psychiatric disorders and their impact on clinical management. The issue also includes a meeting report on the 13th International Conference on Systems Biology, in which Adam Rosenbrock and Amy Caudy select a range of hot topics in systems biology and genomic medicine, including personal genomes and studies in model organisms.

These commissioned articles are followed by a report on Annotate-it, new software that identifies causal variants from patient’s sequencing data under diverse genetic hypotheses. Subsequently, the research article by Wyeth Wasserman and co-workers demonstrates how text analysis can predict novel relationships between genes and diseases, using Medical Subject Heading Overrepresentation profiles, using a method recently reported in BMC Bioinformatics.

Look out for October’s issue of Genome 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.