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This Week in PLOS: Aug 29, 2016

Independent PLOS Genetics studies explore genetic factors associated with facial features in individuals of European or African ancestry. For one of the studies, a University of Pittsburgh-led team did a meta-analysis of available genotyping data for thousands of individuals of European ancestry, focusing on 20 facial features assessed by three-dimensional imaging — a search that led to seven significant loci near genes related to face and skull development. For the second paper, researchers from the UK, Tanzania, Canada, and the Czech Republic describe variants in two genes — SCHIP1 and PDE8A — that were linked to facial size and shape in thousands of children from the Bantu population in the Mwanza region of Tanzania. Our sister publication GenomeWeb Daily News has more on the efforts, here.

A team from the US and Japan identifies a new mutation in the cardiac sodium channel subunit gene SCN5A that appears to make individuals more prone to developing Brugada syndrome — a rare heart rhythm condition that may manifest itself after exposure to certain anti-arrhythmic drugs. For their PLOS One study, the investigators focused on a 66-year-old man who developed Brugada syndrome after being treated with the anti-arrhythmic drug pilsicainide. Genetic tests, including targeted sequencing of the SCN5A gene, led to a previously undescribed mutation called p.V1328M that seemed to alter sodium channel function when pilsicainide is present.

For another PLOS One paper, researchers from Vienna demonstrate the feasibility of doing genomic analyses on tumor touch imprint (TTI) samples that are normally collected for cytopathological tests on tumor cells. The team attempted to do genome-wide SNP testing on DNA from 46 neuroblastoma TTIs and four more pediatric tumor TTIs, successfully generating profiles for all but two of the samples. The approach appeared to perform favorably for finding alterations when compared to fresh or fresh frozen tumor samples.