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This Week in PLOS: Mar 30, 2015

Through a genome-wide association study, researchers from the University of California, Davis, and elsewhere have linked an ADAMTS20 gene variant to the development of cleft lip with or without cleft palate in dogs and suspect it could have a similar function in humans, as they report in PLOS Genetics. They analyzed seven Nova Scotia Duck Tolling Retrievers with cleft lip or palate and 112 controls to home in on a region segregating with the phenotype. Whole-genome sequencing of cases and controls then uncovered a frameshift mutation in ADAMTS20 associated with cleft lip. A parallel family-based association analysis of people also uncovered an association between that gene and cleft lip, though it couldn't resolve a causative mutation.

Also in PLOS Genetics, University of Cape Town researchers collected genome-wide SNP and CNV data from indigenous southern Africans to identify signatures of selection from before and after putative admixture events, such as between indigenous San, Niger-Congo-speaking, and populations of Eurasian ancestry. A number of the signals of selection they identified were associated with diseases like malaria, influenza, tuberculosis, and HIV/AIDS, which the researchers say may represent adaptations to infectious disease.

And in PLOS One, Portuguese researchers present a lossless compression tool to compress Multiple Alignment Format files. Their tool, dubbed MAFCO, is specifically designed to compress whole-genome alignment files. According to the researchers, the MAFCO tool can compress files some 50 percent more than the commonly used gzip, meaning that twice as much data could be stored using their tool.