Study catalogs loss-of-function variants across 141,456 human genomes
Researchers pulled sequencing data from 125,748 exomes and 15,708 whole genomes into the Genome Aggregation Database, according to a study published in Nature. After filtering out sequencing and annotation errors, the team identified 443,769 high-confidence predicted loss of function variants. They then used an updated mutation rate model to classify human protein coding genes along a spectrum of tolerance to gene inactivation.
Measuring how much mutation each gene can tolerate could help researchers find genes tied to both rare and common diseases.
Source: The mutational constraint spectrum quantified from variation in 141,456 humans - Nature (doi.org).
Written by the Genomes desk from the primary source linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].
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