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loss of function

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.

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US National Institutes of Health Director Francis Collins says he will avoid male-only speaker panels.

Two patients fell ill, and one subsequently died, following a fecal microbiome transplant that harbored multi-drug-resistant bacteria, according to the New York Times.

Technology Review reports that eGenesis is testing whether organs from genetically modified pigs can be transplanted into monkeys.

In Science this week: almond reference genome, and more.