High-throughput rare-disease diagnosis using validated AI models: Virtual Geneticist® AI models improve de novo detection and phenotype-driven variant prioritization, enabling higher-throughput ...

Deanna Kroetz was inducted into the National Academy of Medicine, recognized for her pharmacogenetics research and mentoring.

Explore the outstanding achievements of the National Academy of Medicine (NAM) Class of 2025, including groundbreaking ...

PACB, popularly known as PacBio, announced innovations to its Revio and Vega platforms last week. The innovations are expected to lower sequencing costs, add new multiomic capabilities and expand ...

A family have praised the efforts of a Sheffield hospital after catching 'rare' disease hours after their baby was born ...

GeneDx announces that the FDA has granted Breakthrough Device Designation for its whole genome and exome tests.

Brain plasticity: The brains of canary females maintain the ability to sing throughout their lives, even though the birds do ...

The federal government has been—and must remain—a critical partner in foundational technological innovation and research ...

US-based company is developing next-generation sequencers, using AI models in the Republic to speed up diagnostics and lower ...

A rare North American bumble bee may have been on a path toward extinction long before modern human impacts, suggesting that ...

Leighton Hospital will soon begin testing newborn babies for more than 200 rare genetic conditions as part of a world-leading ...