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This Week in PLoS: Feb 13, 2012

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.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.