In early online publication in Nature this week, Helicos BioSciences scientists report directly sequencing single molecule RNA from Saccharomyces cerevisiae without first converting it to cDNA. The end goal of this proof-of-principle study, led by Patrice Milos, is a "comprehensive and bias-free understanding of transcriptomes," says the abstract. GenomeWeb Daily News, our sister publication, has a detailed report.
In a news story, Erika Check Hayden tells how genomics is shifting its focus to rare diseases. With the uncertainty of GWAS association data in mind, some researchers are starting to use next-gen sequencing to find genetic mutations in a small number of individuals with rare diseases. Highlighted are a familial neuropathy, an inherited form of ataxia, and Miller syndrome. "The issue is how we're going to understand the architecture of common disorders," says Baylor College of Medicine's Richard Gibbs. "Three or four years ago I thought it was going to be because of GWAS studies, but I now think that we're going to get there by understanding a whole lot of these Mendelian diseases."
Scientists at Harvard University, the Broad Institute, and the Centre for Cellular and Molecular Biology in Hyderabad, India, genotyped 132 individuals from 25 Indian populations to find that modern Indians come from two ancestral groups, Ancestral North and Ancestral South Indians. The ANI group is genetically close to Middle Easterners, Central Asians, and Europeans, while the ASI group is not related to groups outside India, says a story at GenomeWeb Daily News. A perspective from Johns Hopkins University's Aravinda Chakravarti delves further.
Finally, a slew of papers in Nature Biotechnology this week provide evidence for known and new genetic associations to prostate cancer. Two large studies found SNPs on chromosome 8q24 to be associated with prostate cancer risk. Another GWAS led by the PRACTICAL consortium found seven new loci associated with prostate cancer on chromosomes 2, 4, 8, 11 and 22. And, a follow-on study done by deCode Genetics revealed variants at 3q21.3, 8q24.21, and 19q13.2 and fine-mapped the association at 11q13.