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.

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

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 ...

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 ...

After learning that they carry a mutated version of the BRCA1 gene, their options were to undergo intensive monitoring every six months or to have preventive surgeries involving profound changes to th ...

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 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 ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

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 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 ...

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 ...