Scientists at Google DeepMind —the company’s artificial intelligence research arm—say they’ve created an A.I. tool that can ...

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 ...

Hackathons using AlphaGenome and other AI models are hunting down the genetic causes of devastating conditions that have ...

Google unveiled an artificial intelligence tool Wednesday that its scientists said would help unravel the mysteries of the ...

In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...

Scientists have reached a new milestone in decoding the human genome, unlocking complex regions once believed to be too difficult to study. Researchers used long-read sequencing to analyze the DNA of ...

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 ...

Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Sometimes, in genetics, two wrongs do make a right. A research team has recently shown that two harmful genetic variants, ...

A research team led by Zhiping Weng, Ph.D., and Jill Moore, Ph.D."18, at UMass Chan Medical School, has nearly tripled the ...