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loss of function

In Nature this week: the largest known collection of human genetic variants, and more.

The collection of more than 125,000 exomes and 15,000 genomes has enabled an analysis of loss-of-function variants, may help diagnose rare disease, and guide drug development.

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.

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A new study finds that three dimensional facial scans may be able to aid in diagnosing rare genetic diseases.

The Lancet and the New England Journal of Medicine have retracted two COVID-19 papers due to concerns about the data used in their analyses.

Lawmakers plan to introduce a bill that aims to prevent the theft of US-funded research, according to the Wall Street Journal.

In Science this week: analysis of ancient Caribbean islanders' genomes suggests at least three waves of migration into the region,  DNA barcoding of microbial spores, and more.