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

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

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

RNA therapeutics target translation rather than DNA, aiming to correct shared protein production errors. By enabling cells to read through premature stop codons, engineered tRNAs could restore ...

A new study published in Science is challenging long-held assumptions about how we measure genetic risk in endangered species. Researchers analyzed whole genomes from hundreds of koalas, finding that ...

Tobacco smoking is linked to specific genetic mutations in MDS, affecting chromatin modification and RNA splicing pathways. A dose-response relationship exists, with higher smoking intensity ...

Breast cancer is the most common cancer among women, making up 30% of all new cases each year. Knowledge is power when it comes to detection and prevention of this disease: Genetic testing can play an ...

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 ...