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Exome sequencing and case-control analyses on hundreds of stillborn cases led to more than a dozen apparent risk genes and additional loss-of-function intolerant genes.
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.
Two COVID-19 vaccine developers have released their trial protocols to build public trust, the New York Times reports.
A new analysis finds the rapid COVID-19 test from DnaNudge to be highly accurate, Reuters reports.
In Science this week: global citizens' assembly on genome-editing technologies proposed, epigenetic markers predict metformin response, and more.
According to the Verge, many US states are not including positive results from rapid COVID-19 testing in their case numbers.