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.

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

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 ...

Medically reviewed by Jeffrey S. Lander, MD Key Takeaways There is a hereditary form of transthyretin amyloid cardiomyopathy (ATTR-CM) caused when a mutated gene is passed from parent to child.Having ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

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 ...

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 ...

A new method for safely inserting large chunks of DNA into genomes has now measured up in mice, potentially paving the way ...

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 ...

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 ...