Chickens are one of the most important livestock globally, serving not only as a primary source of high-quality protein for humans but also carrying unique genetic characteristics across different ...

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 ...

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 ...

An international consortium of geneticists, biologists, clinicians, mathematicians, and other scientists is determined to take the study of the human genome to the next level—creating a comprehensive ...

Philadelphia, April 17, 2025 – Researchers from Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully ...

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 ...

A new version of the human reference genome incorporates genetic data from 47 individuals from around the globe, deepening scientists' view into how genes work. When you purchase through links on our ...

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 ...

Short-read sequencing has helped scientists identify and study genetic variants that increase Alzheimer’s disease risk, for example in the APOE, TREM2, and other genes. Yet these methods fail to ...

Researchers have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.