loss of function

An exome sequencing analysis of individuals from eight families led to homozygous loss-of-function mutations in CD55 and ties to complement system activity.

Even in schizophrenia cases lacking intellectual disability, investigators found that rare mutations in genes normally resistant to loss-of-function changes were enriched.

A study in NEJM found that rare, loss-of-function mutations in the asialoglycoprotein receptor gene coincide with lower non-HDL levels and decreased coronary artery disease risk.

Investigators looked at potential health impacts for the rare, homozygous loss-of-function mutations they detected in 3,200 British-Pakistani individuals.

Independent research groups garnered evidence that mutations to the ANGPTL4 gene can lower blood triglyceride levels and reduce coronary artery disease risk.

An international team tracked down de novo mutations in the CHAMP1 gene in five children with intellectual and motor delays, speech impairment, and other symptoms.

The University of Florida Academic Health Center this week launched a new personalized medicine effort in which all patients visiting its catheterization lab will receive a multi-gene test that will be used to discern whether they are likely to respond to the anti-platelet drug c

Findings in a NEJM study this week challenged previously reported data that alleles in the CYP2C19 gene can limit how certain carriers of the polymorphisms respond to Plavix.

Two researchers have found that behavioral genetic defenses in criminal cases don't tend to affect outcomes, according to Popular Science.

Researchers report that while host genetics influence the oral microbiome, they don't appear to affect cavity-causing microbes, the Economist says.

Pandas' gut microbiomes change as what they eat changes with the seasons, writes Discover's Inkfish blog.

In PLOS this week: comparative genomic study of malaria-linked macaque parasite, search for apple root reference genes, and more.