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.
With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.
NPR reports that government and private insurers are being slow to cover recently approved CAR-T cell therapies.
CNBC reports that there are thousands of genetic tests available for consumers to chose between.
In Nature this week: genomic analysis of ducks, whole-genome doubling among tumor samples, and more.