Investigators at the University of Cambridge in the UK and their colleagues report on their analysis of copy number and gene expression in a discovery set of 997 primary breast tumors and validation set 995 such tumors, with long-term clinical follow-up. Through this, the team found that inherited variants — both CNVs and SNPs — and acquired somatic copy number aberrations were associated with expression in around 40 percent of genes, "with the landscape dominated by cis- and trans-acting CNAs," or copy number aberrations.
In a letter appearing in this week's Nature, Cardiff University's Alex Hardisty and Dave Roberts at the Natural History Museum in London invite those interested "to help establish an infrastructure to improve the accessibility of the ever-increasing volumes of biological data." Hardisty and Roberts point to an open document they've posted to served as a community consultation forum, and add that a public meeting on the initiative will be held in Brussels in July.
Over in Nature Genetics, an international team led by investigators at Erasmus Medical Center in The Netherlands report 56 loci associated with bone mineral density at genome-wide significance, 32 of which were previously unrecognized. In its genome-wide association study on 32,961 individuals of European and East Asian ancestry, the team also found that 14 of those loci were also associated with fracture risk. Our sister publication GenomeWeb Daily News has more on this study.