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This Week in PLOS: Oct 24, 2016

In PLOS Genetics, researchers from Canada, Germany, and the US describe a potential role for Notch signaling family genes in congenital heart disease. The team used a combination of exome sequencing and targeted sequencing to assess 106 affected individuals and 76 unaffected individuals from 51 French Canadian families in which left-ventricular outflow tract obstructions, a diverse set of developmental heart conditions, occurs. By folding in information on disease features and patterns within families, the investigators identified potentially pathogenic mutations in a dozen families, including families affected by Notch signaling pathway gene mutations.

For a paper in PLOS One, an international team led by investigators in Finland looks for genetic variants involved in sciatica risk in the Finnish population. Through a meta-analysis focused on millions of directly genotyped and imputed SNPs for 291 individuals with the lower back disorder and almost 3,700 without, the researchers focused in on suspicious variants that they subsequently assessed in 776 more Finnish sciatica patients and 18,489 controls. The search led to two newly validated loci on chromosomes 9 and 15 with links to sciatica in the Finnish population, along with a second chromosome 15 site with more tenuous ties to the condition.

Researchers reporting in PLOS Neglected Tropical Diseases present findings from a study of Rift Valley fever virus (RVFV) circulation in the Central African Republic. Along with antibody profiling on more than 1,000 blood samples from sheep, cattle, goats, and people working with these livestock, the team did genome sequencing on a RVFV virus isolate obtained from a mosquito in 1969 and another isolate from a human sample in 1985. "Comparison of the sequences isolated from vectors and humans in the [Central African Republic] with those isolated in other African countries show that they belong to the East/Central African clusters," the authors note, "confirming RVFV strain exchanges among geographic areas."

The Scan

Genetic Ancestry of South America's Indigenous Mapuche Traced

Researchers in Current Biology analyzed genome-wide data from more than five dozen Mapuche individuals to better understand their genetic history.

Study Finds Variants Linked to Diverticular Disease, Presents Polygenic Score

A new study in Cell Genomics reports on more than 150 genetic variants associated with risk of diverticular disease.

Mild, Severe Psoriasis Marked by Different Molecular Features, Spatial Transcriptomic Analysis Finds

A spatial transcriptomics paper in Science Immunology finds differences in cell and signaling pathway activity between mild and severe psoriasis.

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.