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 ...

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 ...

Northwestern University biophysicists have developed a new computational tool for identifying the gene combinations underlying complex illnesses like diabetes, cancer and asthma. Unlike single-gene ...

“Some genetic diseases are relatively simple, with an essentially one-to-one relationship between the presence of a genetic variant — or a change in a person’s DNA that differs across people — and the ...

A research team led by Zhen-Xing Endowed Professor Jian Yang at the School of Life Sciences, Westlake University, has ...

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 ...

A new global review shows that countries are taking very different approaches to regulating polygenic embryo testing. For more than four decades, in vitro fertilization (IVF) has helped families have ...

In a recent study published in the journal Nature Human Behaviour, researchers from the United States of America conducted a genome-wide association study (GWAS) on personality traits to identify ...