Assessments of DNA misrepair, and the resulting effects on the structural integrity of the genome, are critical for evaluating the safety of cell and gene therapy applications. Most genome editing ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Scientists have accomplished the most advanced engineering of human cell lines to date, demonstrating that genomes are more ...

NATIONAL HARBOR, Md. -- Genome sequencing of the fetus and both parents in pregnancies with structural anomalies pinpointed a causative genetic variant in nearly a fifth of cases in a prospective ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

In a recent study published in PNAS, researchers introduced the Genomic Pre-trained Network (GPN), a multispecies model developed to learn genome-wide variant effects by self-supervised pretraining on ...