Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...

A new synthesis finds that common epilepsies are driven by thousands of tiny-effect genetic variants, most still ...

Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T ...

A researcher in Australia has received funding from MS Australia to uncover how genetic variants contribute to multiple sclerosis (MS).

The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, such ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...

Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...