A relatively common (present in more than 1% of the population) alternative version of a DNA sequence. Some variants are associated with particular traits and disorders, but many have no observable effect on appearance or health.
A seventh person appears to have been cured of HIV due to a blood stem cell transplant...
Rare genetic variants in a single gene appear to increase the risk of developing mental health conditions, according to a new study...
An artificial intelligence model has been developed to identify unseen disease-causing genetic variants and rank their severity, according to a new study...
The first men have been recruited for a screening trial which aims to find a better way to detect prostate cancer...
Individual genes have been shown to produce multiple proteins, providing a potential insight into rare diseases that have previously lacked a clear explanation...
The discovery of new associations between genes and obesity has highlighted the importance of including individuals of non-European ancestry in genetic studies...
A gene variant that can cause inaccurate type 2 diabetes blood test results is more prevalent in black and South Asian men, and can delay diagnosis...
The Quebec government is considering the introduction of a registry for sperm, egg, and embryo donors, following the discovery of prolific sperm donors in the province...
Autism diagnosed early in life has different characteristics and genetic influences from later-diagnosed cases, new research suggests...
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