Artificial intelligence is rapidly becoming medicine’s most powerful microscope, revealing patterns in human DNA that were ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

A tiny percentage of our DNA—around 2%—contains 20,000-odd genes. The remaining 98%—long known as the non-coding genome, or ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

EMBL researchers created SDR-seq, a next-generation tool that decodes both DNA and RNA from the same cell. It finally opens access to non-coding regions, where most disease-associated genetic variants ...

Tuberculosis (TB) is one of the oldest and deadliest infectious diseases we know. It commonly impacts the lungs, but can also affect other areas of the body like the spine, brain or kidneys.

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai ...

A research team led by Eske Willerslev, professor at the University of Copenhagen and the University of Cambridge, has recovered ancient DNA from 214 known human pathogens in prehistoric humans from ...

Researchers identified a new, sticky form of mitochondrial DNA damage that builds up at dramatically higher levels than in nuclear DNA. These lesions disrupt energy production and activate ...