University of Alabama at Birmingham's Degui Zhi and Rui Chen at Baylor College of Medicine in Houston, Texas, this week "present a statistical modeling framework to calculate the power [and] the probability of identifying truly disease-causing genes" when performing mutation detection studies on rare monogenic Mendelian diseases using exome sequencing. "Based on our model, we found that the exome sequencing approach is well-powered for mutation detection in recessive, but not dominant, Mendelian diseases with high locus heterogeneity," Zhi and Chen write in PLoS One this week.
Over in PLoS Biology, a public-private team led by investigators in Australia presents a genome-wide analysis of sheep breeds, which it says "reveals high levels of historic mixture and strong recent selection." The researchers found that the "majority of sheep populations contain high SNP diversity and have retained an effective population size much higher than most cattle or dog breeds, suggesting domestication occurred from a broad genetic base," they write.
A large international team led by investigators at the Institut Pasteur in Paris reports in PLoS Genetics this week its sequencing of SHANK2 in 455 patients with autism spectrum disorders and 431 controls, through which it found "three patients with de novo SHANK2 deletions [who] also carried inherited CNVs [copy-number variants] at 15q11-q13 previously associated with neuropsychiatric disorders." The Institut Pasteur-led team says its analysis is in support of a "multiple hit model" for autism spectrum disorders.
Finally in PLoS Pathogens, researchers at the University of Exeter and at New Mexico State University compare the utility of RNA-seq and high-throughput SuperSAGE for identifying differential gene expression in Magnaporthe oryzae, a rice pathogen. "When considered together, these data provide a comprehensive high-resolution analysis of gene expression changes associated with cellular differentiation that will provide a key resource for understanding the biology of rice blast disease," the authors write.