As more people start to opt for genetic carrier testing ahead of conception, doctors and parents-to-be are facing difficult ...

An experimental gene therapy developed by researchers at UCLA, University College London and Great Ormond Street Hospital has ...

The origins of variation in the human genome revealed that advances in cognitive abilities likely led to our vulnerability to ...

Researchers at the Central Institute of Mental Health (CIMH) in Mannheim, together with international partners, have ...

The findings suggest that the acquisition of the modern NOVA1 variant may have protected us from the detrimental effects of ...

RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet ...