With long-read sequencing, mapping, and other approaches, researchers assembled a high-quality genome for Aedes aegypti, a notorious infectious disease vector.
Based on the results, RAB10 could be a promising therapeutic target for the prevention of Alzheimer's.
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.
The New York Times and ProPublica say that many physicians fail to disclose their financial ties when publishing in medical journals.
The Wall Street Journal reports Human Longevity's valuation has dropped by 80 percent.
Science reports that the US National Cancer Institute is cutting its operating budget by 5 percent.
In PLOS this week: similar variants seen in bullbogs, people with Robinow syndrome; ApoE genotypes in African-American, Puerto Rican populations; and more.