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This Week in PNAS: Mar 31, 2015

Editor's Note: Some of the articles described below are not yet available at the PNAS site, but they are scheduled to be posted some time this week.

Researchers from the UK and US report in a paper to be posted at the Proceedings of the National Academy of Sciences site this week on their analysis of missense mutations found in integrin αIIbβ3 receptor subunit genes that had been uncovered by whole-exome or -genome sequencing of more than 16,000 individuals. They compared these variants to ones linked to the bleeding disorder Glanzmann thrombasthenia to identify 14 novel missense variants in ITGA2B and 68 novel missense variants in ITGB3. Two of the new variants that were predicted to be deleterious profoundly affected recombinant protein expression, the researchers note.

French researchers compared whole-exome and whole-genome sequencing data from six unrelated individuals to find that whole-genome sequencing is better able to find exome variants. While both approaches broadly identified the same SNVs and indels, whole-genome sequencing was able to detect an additional 650 high quality coding SNVs, or about 3 percent of coding variants, that were missed by whole-exome sequencing. Whole exome sequencing picked up only 26 high quality coding SNVs that whole-genome sequencing didn't. "WGS is therefore slightly more efficient than WES for detecting mutations in the targeted exome," the researchers say.

Finally,Stony Brook University School of Medicine researchers report on how perturbations to codon pair bias affect dengue virus, which infects both mosquitoes and mammals, in a paper appearing in PNAS this week. By recoding the viral genome to alter the usual codon pair bias in the virus to one that more resembles the bias seen in insects, the researchers generated viruses that favored insect hosts over mammalian ones. In a mouse model, these recoded viruses were attenuated and could, the researchers added, present a fast way to develop vaccine candidates for dengue and other insect-borne viruses.