linkage analysis

A pair of papers has linked mutations in the DCC gene to agenesis of the corpus callosum as well as to a new syndrome.

This Week in PNAS

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.

This Week in PLOS

In PLOS this week: locus linked to non-syndromic hearing loss, phylogenetic relationships of Klebsiella pneumoniae isolates, and more.

This Week in PLOS

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. 

This Week in PLOS

In PLOS this week: phylogenetic study of hepatitis E viruses in Swedish moose, recombination sites in the honeybee genome, and more.

Pages

Dog DNA testing finds that some purebreds might not truly be purebreds, Inside Edition reports.

Mary Beckerle has returned as director of the Huntsman Cancer Institute, according to ScienceInsider.

Smithsonian Magazine reports that environmental DNA sampling can be used to track elusive organisms.

In Genome Research this week: repetitive satellite DNA in the fruit fly, transcriptome map assembly pipeline, and more.