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 ...

Cancer begins when mutations in specific genes override the body’s built-in controls on cell division, allowing rogue cells ...

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

Hereditary ATTR-CM can run in families. Learn who may be at risk, when genetic testing is recommended, the benefits of screening, and how to talk with relatives.

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 ...

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 ...

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 ...