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This Week in PLOS: Jun 5, 2017

In PLOS Neglected Tropical Diseases, investigators from the Human Heredity and Health in Africa Consortium describe TrypanoGEN, a network involving researchers from countries in Africa, Europe, and the UK that has come together to establish a biobank and other resources to study sleeping sicknesses caused by the Trypanosoma brucei gambiense and T. b. rhodesiense sub-species. The biobank samples include archived specimens, retrospectively collected samples, and prospective samples from human African trypanosomiasis cases, the team notes. So far, the collection includes low-coverage whole-genome sequencing on almost 300 Trypanosoma isolates from half a dozen countries, along with SNP genotyping profiles and human African trypanosomiasis-related clinical phenotypes.

Researchers from Singapore report on the range of mutations identified in children from Singapore with retinoblastoma for a study appearing in PLOS One. The team turned to multiplex ligation-dependent probe amplification assays, deletion screens, sequencing, copy number, and methylation analyses to search for suspicious mutations in matched tumor and blood samples from 18 individuals with bilateral retinoblastoma and 41 unilateral retinoblastoma cases. The search uncovered candidate mutations in all but three cases, including 10 point mutations that had not been implicated in retinoblastoma in the past. Based on their results, the authors argue that "further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of [retinoblastoma]."

A team from Texas A&M and the University of Minnesota considers microbiome differences on the skin of cats with or without allergies for another PLOS One paper. Using 16S ribosomal RNA sequencing, the researchers profiled the bacterial representatives present in nearly 200 skin swab samples from 10 allergic cats and 11 unaffected control kitties. From these data, they saw a slight uptick in Staphylococcus bugs in the skin samples from allergic felines, though the types of bacteria present were similar between both the allergy-prone and allergy-free groups. The authors also note that "bacterial microbiota on the skin of healthy cats tends to prefer specific body niches and skin physiologies (haired, mucosal, sebaceous, and oral)."