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This Week in Nature: Dec 13, 2012

In Nature this week, Stanford University scientists led by 2012 Nobel Laureate Brian Kobilka publish the structure of a human G-protein-coupled receptor bound to a drug. Specifically, they showed the crystal structure of the coagulation-mediating human protease-activated receptor 1 associated with vorapaxar, a PAR1 antagonist under clinical development for the prevention of cardiovascular events in patients with a history of heart attacks. "The structure reveals an unusual mode of drug binding that explains how a small molecule binds virtually irreversibly to inhibit receptor activation by the tethered ligand of PAR1," and is expected to help in the development of next-generation PAR1 antagonists.

Meanwhile, in Nature Biotechnology, a multi-institute team led by researchers from the Broad Institute present a new algorithm aimed at addressing the variability and statistical challenges facing differential analysis of gene and transcript expression using high-throughput RNA sequencing. The algorithm, called Cuffdiff 2, estimates expression at transcript-level resolution and controls for variability evident across replicate libraries and "robustly identifies differentially expressed transcripts and genes and reveals differential splicing and promoter-preference changes." The researchers say that the algorithm will enable improved analysis of complex cellular circuitry and allow for the precise association of genomic sequence to gene regulation.

The Scan

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.

Clinical Genomic Lab Survey Looks at Workforce Needs

Investigators use a survey approach in Genetics in Medicine Open to assess technologist applications, retention, and workforce gaps at molecular genetics and clinical cytogenetics labs in the US.

Study Considers Gene Regulatory Features Available by Sequence-Based Modeling

Investigators in Genome Biology set sequence-based models against observational and perturbation assay data, finding distal enhancer models lag behind promoter predictions.

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.