linkage analysis

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.

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.

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The US Food and Drug Administration has approved Alnylam's RNAi-based therapy Onpattro, according to Stat News.

Harvard Medical School's Seth Cassel and Cigall Kadoch argue in a Baltimore Sun op-ed that the recent TAILORx trial shows the potential of genomic-based medicine.

Researchers in the UK are working on using gene drives to control malaria-carrying mosquitoes, the Telegraph reports.

In PLOS this week: genetic architecture mediating gene expression, metabolomic patterns in multiple myeloma, and more.