Researchers applied a SNP heritability model called LDAK to genetic data for a range of human traits, uncovering relatively high levels of variance explained by SNPs.
A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.
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.
Researchers find that a personalized medicine approach could help people who experience pain while taking statins, New Scientist reports.
US National Science Foundation is continuing its responsible research conduct training policy despite its flaws, ScienceInsider reports.
A CRISPR-themed meeting explored how the tool could and should be used, Wired reports.
In Science this week: database of proteins' effects on cancer, targeted error correction sequencing, and more.