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.
Researchers have identified mutations in the RORC gene that produce inborn errors of immunity affecting both interleukin-17 and interferon-gamma immune pathways.
Parabon NanoLabs is partnering with law enforcement to use genetic genealogy approaches to solve cold cases, Buzzfeed News reports.
A Columbia University-led team used emergency contact information from medical records to create family trees and estimate disease heritability.
In Science this week: ancient Southeast Asian genomes provide insight on human migration, and more.
NPR says a new report recommends that former research chimpanzees should be moved to retirement sanctuaries unless that move would shorten their lives.