Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for many years. The disease causes impairments in movement and balance, and these ...

Scientists from the University of Nottingham have developed a new method of genetic analysis, which extracts more precise data than previously used methods when looking at DNA, and will improve our ...

There are individuals who carry the same deletion of chromosome 16, and those same delections can lead to a wide range of potential neurodevelopmental issues in carriers, from milder mental illnesses ...

“...a riddle wrapped in a mystery inside an enigma; but perhaps there is a key” — Winston Churchill, in a radio broadcast made in 1939 The genetic architecture ...

Deep learning models have shown great potential in predicting and engineering functional enzymes and proteins. Does this prowess extend to other fields of biology as well? Contrary to expectations, a ...

The expansion of ancestrally diverse genetic cohorts has altered the landscape of complex disease genetics. Differences in linkage disequilibrium across populations have improved fine-mapping and the ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

Structural variants (SVs) are alterations in the DNA sequence that involve large-scale changes, typically longer than 50 base pairs. Advances in long-read sequencing have significantly increased ...

Predicting observable traits from genetic variation remains difficult due to the complex interplay of multiple genes and environmental influences. Widely used statistical approaches are limited in ...

Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as ...

Improving the genetic circuits in eukaryotic protein production systems—like human cell lines or Chinese hamster ovaries—has the potential to enhance their value so they may offer not only their own ...