Primary angle-closure glaucoma is a leading cause of blindness. Here, the authors identify rare deleterious variants in UBOX5 as risk factors and implicate BIP ubiquitination as a potential disease ...

For decades, the “classical view” of genetics has hewn closely to the original work of Austro-Hungarian biologist Gregor ...

A new study published in Genome Research presents an interpretable artificial intelligence framework that improves both the accuracy and transparency of genomic prediction, a key challenge in fields ...

The work demonstrates the power of ancient DNA to illuminate human biology and medicine in addition to history. A massive ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

A new study has identified four biologically distinct subtypes of autism, each with identifiable symptom clusters and lifetime trajectories. Researchers then linked each group to specific biological ...