For a paper appearing in PLOS One, researchers from the Mayo Clinic College of Medicine and Science, the University of Mississippi Medical Center, and elsewhere used a commercial metagenomic shotgun sequencing assay called iDTECT from the French company PathoQuest to profile microbes found in blood samples collected over time from 20 leukemia patients who developed a fever condition called acute leukemic febrile neutropenia after chemotherapy. With this approach, the team narrowed in on suspicious, clinically relevant microbes — including a rhinovirus, Staphylococcus aureus, and S. epidermis sequences in patients with a respiratory infection, cellulitis, or a bloodstream infection, respectively — though the microbes found did not line up with those found in corresponding blood cultures. From these and other findings, the authors argue that “metagenomic shotgun sequencing could potentially be used as a supplement to standard tests to increase the yield of microbiological diagnosis. However, improvements in and optimization of sample preparation methods and sequencing platforms will be needed for widespread adoption of this approach in clinical practice.”

In PLOS Genetics, a Shanghai Jiao Tong University School of Medicine-led team describes contributors to a benign skin condition called keloid disorder. With the help of RNA sequencing and high-throughput chromosome conformation capture analyses, the researchers analyzed risk loci found through prior genome-wide association studies, using the combined data to put together networks that implicated at least half a dozen pathways behind keloid disorder pathogenesis. In addition, the study authors say, the results suggest that the “true genetic mechanism” behind keloid disorder “is likely to be the dysfunctional epigenetic regulation caused by mutations in regulatory elements at the non-coding region[s] as revealed by the combined analyses of GWAS, RNA-sequence, and Hi-C data.”

Researchers from Brazil share findings from a Leishmania braziliensis population genetics study centered on Northeastern Brazil. As they report in PLOS Neglected Tropical Diseases, they relied on targeted sequencing and genotyping to profile chromosome 24 and chromosome 28 loci in L. braziliensis parasites isolated from more than 150 patient lesions, representing cases identified between 2008 and 2011 and from 1999 to 2001. Together, the findings hinted that L. braziliensis “can maintain populations that are genetically stable for several years in foci of human leishmaniasis,” the study’s authors suggest, “and are capable of robust recombination of their genetic contents, probably due to events of sexual reproduction during its life cycle.”

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