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This Week in Nature: Feb 10, 2011

Nature this week commemorates the 10th anniversary of the human genome. In a perspectives piece, Elaine Mardis at Washington University in St. Louis recaps advances in massively parallel sequencing and the emergence of metagenomics, medical sequencing, and personal genomics, and also looks to the future of sequencing, discussing technologies on the horizon and their potential for clinical applications. In particular, Mardis touts single-molecule sequencers and says that once they produce longer reads, researchers would be more likely to achieve "the level of facility in data analysis for diagnostic medicine applications that we once enjoyed while sequencing the human genome." Mardis is optimistic. "The future of genomic medicine via massively parallel sequencing seems imminent," she says. "As time progresses, our 'engines' continue to improve in their sophistication and power, further enabling us to explore the human genome roadmap in our continuing journey to improve human health."

In another editorial, National Human Genome Research Institute Director Eric Green plots a path to tack "genomic medicine from base pairs to bedside." He lays out plans for "understanding the biology of genomes" and disease, advancing medical genomics, and improving health care, among other things. Green says that for genomics, "although staggering challenges remain, the fundamental goals have not changed — genomics and related large-scale biological studies will, in ways not previously available, lead to a profound understanding about the biology of genomes and disease, to unimagined advances in medical science, and to powerful new ways for improving human health."

The Broad Institute's Levi Garraway and his colleagues describe in Nature this week "the genomic complexity of primary human prostate cancer." The team sequenced seven primary prostate cancers and paired normal samples and found "rearrangements that occurred within or adjacent to known cancer genes," which were "enriched near open chromatin, androgen receptor, and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumors lacking ETS fusions." As a result of its investigation, the Broad-led team suggests a possible "link between chromatin or transcriptional regulation and the genesis of genomic aberrations."

Also this week, the University of Rochester's Chenguang Gong and Lynne Maquat report that long, non-coding RNAs "transactivate STAU1-mediated mRNA decay by duplexing with 3' UTRs via Alu elements," which they say is an "unexpected strategy that cells use to recruit proteins to mRNAs and mediate the decay of these mRNAs." Gong and Maquat have dubbed these lncRNAs "half-STAU1-binding site RNAs," or 1/2-sbsRNAs.

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.