In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.
The LOHGIC algorithm is currently being used to analyze tumor sequencing assay results as part of the Rutgers Cancer Institute's precision medicine program.
A null mutation in the SERPINE1 gene was associated with longer telomeres and increased longevity among carriers, a new study found.
The perturbed genes will be identified by barcodes associated with single guide RNAs, and read using an in situ sequencing method.
Using a synthetic genetic screen, investigators identified potential drug targets and tumor suppressors in colorectal cancer xenograft models.
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.
Though many details have yet to be worked out, the draft deal for the UK's withdrawal from the EU is giving researchers some hints for what they can expect, Nature News says.
DNA testing has solved a 100-year-old mystery contained in the skull and teeth samples of a now-extinct monkey that once inhabited Jamaica, Gizmodo reports.
As the UN ponders a ban on gene drives, one malaria researcher says there are less dramatic ways to fight the disease in Africa than unleashing GM mosquitoes on a whole continent.
In Nature this week: an improved reference genome of the Aedes aegypti mosquito, genomes of four species of truffles, and more.