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PLOS Papers on Psychiatric PRS PheWAS, Rhesus Macaque CNVs, Echinococcosis Parasites

In PLOS Genetics, researchers from the University of Bristol, Cardiff University, and the University of Bath present findings from a phenotypic-focused phenome-wide association study of psychiatric disorder polygenic risk scores. Starting with data for nearly 335,000 UK Biobank participants, with more than 23,000 related outcomes, the team took a look at polygenic risk scores (PRS) for major depression, bipolar disorder, schizophrenia, attention-deficit/hyperactivity disorder, and autism spectrum disorder. The results uncovered apparent ties between PRS and almost 300 phenotypic outcomes, the authors note, hinting that "genetic risk for psychiatric disorders associated with a range of health and lifestyle traits that were measured in adulthood, in individuals from the general population who do not necessarily present with a psychiatric disorder diagnosis." 

For another paper in PLOS Genetics, an international team led by investigators in Spain and the US considers copy number variant and duplication patterns in the rhesus macaque, Macaca mulatta. Using sequence depth, non-diploid regions, and other clues, the researchers identified fixed duplications, copy number variations, or unclassified non-diploid regions in nearly 200 new and previously sequenced high coverage rhesus macaque genomes. While a significant proportion of the Old World monkey's genome was home to recent duplications that roughly resembled those described in human genomes, the authors report, some of the regions containing copy number variants and fixed duplications in the rhesus macaque genome differed significantly from those reported in humans. "We have identified genes associated with human disease that have different copy number profiles between these two species," they note, "and therefore, we suggest avoiding human-centered assumptions in biomedical research conducted with model organisms."

Researchers from Switzerland and Kyrgyzstan explore molecular features and genetic diversity in the echinococcosis-causing zoonotic tapeworm parasites in Kyrgyzstan for a paper in PLOS Neglected Tropical Diseases. The team considered targeted sequence data for dozens of clinical isolates from Kyrgyzstan, including samples from 52 cases involving Echinococcus multilocularis, which causes alveolar echinococcosis, and 20 cases caused by E. granulosus sensu lato, the parasite behind cystic echinococcosis. Together with sequences from 23 E. multilocularis and 20 E. granulosus s.l.isolates from dogs in the region, the authors narrowed in on the predominant E. multilocularis haplotype found in both humans and dogs, and began tallying the broader diversity present in both parasites.