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This Week in PLOS: Apr 24, 2017

In PLOS Genetics, members of the African anthropometry genetics consortium outline results from an adiposity genome-wide association study meta-analysis, which included imputation and fine-mapping steps. Based on directly genotyped and imputed SNP profiles in almost 53,000 individuals with available body mass index measurements and more than 23,000 individuals with measurements for assessing waist-to-hip ratio — along with subsequent validation in European individuals — the team uncovered new and known loci with ties to these traits. "Our results highlight the improvement of applying high density genome coverage and combining multiple ancestries in the identification and refinement of location of genetic regions associated with adiposity traits," the authors wrote.

A team from Denmark and the UK presents an in silico strategy for assessing the pathogenicity of missense mutations in the MSH2 gene that may or may not contribute to Lynch syndrome for another PLOS Genetics paper. Using a combination of saturation mutagenesis, biophysical modeling, and co-variation analyses in a human cell lines, the researchers tracked the consequence of two dozen variant combinations in MSH2, which resulted in range of predicted amino acid and crystal structure changes in the protein it encodes. Based on their results, the study's authors note that "biophysical modeling can, to a large extent, predict the metabolic stability of proteins" and "the same biophysical calculations can be used to distinguish with high accuracy neutral sequence variation from pathogenic variants."

For a study appearing in PLOS One, researchers from Germany and Hungary explore long non-coding RNAs that appear to have prognostic potential in urothelial carcinoma. The team focused on seven lncRNAs described in past studies of the disease, using RT-qPCR to assess levels of the lncRNAs in several cell lines and tissue types. Along with available data from the Cancer Genome Atlas project, the results pointed to enhanced levels of most lncRNAs in the urothelial cancers. The researchers also saw altered lncRNA expression in individuals with urothelial carcinoma who had poor outcomes.