In PNAS this week: AKT1 mutations in pulmonary sclerosing hemangioma, genomic study of hyper-virulence in Campylobacter jejuni, and more.
A mutation uncovered in a Belgian family through genetic analysis disrupts pyrin protein regulation to lead to an autoinflammatory disease.
An autosomal dominant form of vibratory urticaria has been linked to a missense mutation in the ADGRE2 gene that appears to affect mast cell function and inflammation.
The team built on a previous approach that used single-cell sequencing to screen for chromosomal abnormalities in embryos from couples undergoing IVF.
In PLOS this week: locus linked to non-syndromic hearing loss, phylogenetic relationships of Klebsiella pneumoniae isolates, and more.
In PLOS this week: missense variant linked to form of primary open-angle glaucoma, sapovirus genome sequence, and more.
Researchers have identified mutations in the RORC gene that produce inborn errors of immunity affecting both interleukin-17 and interferon-gamma immune pathways.
Researchers used exome sequencing to pinpoint DOCK2 mutations as causative of early childhood immune deficiency that leads to severe infections.
In PLOS this week: phylogenetic study of hepatitis E viruses in Swedish moose, recombination sites in the honeybee genome, and more.
NEW YORK (GenomeWeb News) — Through both linkage analysis and whole-exome sequencing, an international team of researchers has linked mutations in the protein kinase DYRK1B gene to metabolic syndrome.
A Karmagenes researcher has lost his position after reportedly admitting to data fabrication, according to Retraction Watch.
Two neuroscientists write in Nature News that solving the "reproducibility crisis" in science may require changing the requirements for publication.
In Nature this week: genomic analysis of prehistoric New Mexicans, a nanopore method for mapping DNA methylation, and more.
A new study finds that adding missing good bacteria to the skin microbiome of atopic dermatitis patients decreases Staphylococcus aureus colonization.