Researchers focused in on strong candidate genes in schizophrenia with brain anatomy, brain activity, and behavioral screens on a large set of zebrafish mutants.
Loss-of-function mutations in PADI3, which was previously linked to uncombable hair syndrome, appear to be involved in central centrifugal cicatricial alopecia.
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.
The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.
Astronauts have edited yeast genes on the International Space Station in an experiment designed to show how cells repair themselves in space.
Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.
In Science this week: influence of the nuclear genome on human mitochondrial DNA, and more.