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.
What happens to scientific papers when certain journals are no longer published? Some scientists are trying to make sure they don't disappear forever.
A study in Microbiome finds that heavy drinkers have an unhealthy mix of bacteria in their mouths.
Doctors and patients are still trying to figure out what role at-home genetic testing should play in healthcare, Newsweek says.
In Genome Research this week, mismatch repair deficiency in C. elegans, retracing transcriptions start site evolution in the human genome, and more.