Firstly, Peter Scacheri and colleagues provide an insight into how epigenetic silencing of genes in colon cancer cells is attained. The study demonstrates for the first time that silencing of non-CpG island-rich promoters, in the same fashion as CpG island-rich promoters, depends on hypermethylation of cytosines and loss of the H3K4me3 marker.
A second study by Oliver Bathe and colleagues has critical clinical importance, as it analyzed whether the serum metabolomic profile of patients in different stages of colorectal cancer can predict their metastatic state. The researchers found this to be indeed the case, providing a novel method to accurately assess the stage of the disease. As such, the findings of this study may help to provide a more personalized therapeutic approach.
A third study, a comprehensive comparative analysis of nine state-of-the-art gene regulatory network inference methods, reports large differences in the accuracy of distinct methods. Applying the best-performing method to an ovarian carcinoma dataset, Mark Ragan and collaborators were able to predict both reported and novel regulatory interactions, which may be potential drug targets. This study featured in The Australian and is part of a thematic series on Cancer Bioinformatics.
Also in this issue, a new computational prediction framework, Consensus, is proposed for evaluation of uncertain gene variants, contributing to improved data visualization and clinical decision-making.
Commissioned articles include a Review from Nadav Ahituv and colleagues discussing how next-generation sequencing is bringing a better understanding of the role of regulatory element variations in different responses to therapeutic drugs, while a Review from Philippos Patsalis and Elisavet Papageorgiou covers recent advances in non-invasive prenatal diagnosis of aneuploidies. The issue also includes a Research highlight covering three recent studies on ultraviolet-sensitive syndrome published in Nature Genetics, and a Meeting report from Daniel MacArthur on the Genomic Disorders 2012 meeting.
Stay tuned for the June issue of Genome Medicine for pharmacogenomics of depression, return of incidental findings in the clinic, and much more!