Publications by authors named "Youfu Tao"
Nucleic Acids Res
January 2025
Article Synopsis
- Gain-of-function (GOF) variants enhance or change protein functions and are crucial for understanding diseases, but identifying them is tough due to scattered data and limited databases.
- The authors reviewed existing research to gather 3089 single-nucleotide variants and 72 small insertions/deletions across 579 genes linked to 1299 diseases, combining this with 3.5 million predicted GOF variants and employing a custom scoring system to rank their significance.
- They created GoFCards, a user-friendly database that allows geneticists and clinicians to easily access and analyze GOF variants, providing extensive annotations and the ability to prioritize variants even for those with limited bioinformatics experience.
