“Scientists use many different techniques to study human genomes,’’ says USF’s Xiaoming Liu. “I’m a tool maker and other human geneticists can use my tools to solve their specific research or clinical questions.’’ Liu and fellow researchers were top performers in the worldwide Annotate All Missense challenge. The project challenges researchers to see how good their models are at figuring out what genetic changes actually mean.

The team used a pathogenicity predicting model for small amino acid-changing mutations in human genomes that can distinguish harmless mutations from those that are harmful to a gene and likely to cause disease. “Our DNA is packed with millions of tiny changes — most do nothing, but a few can seriously affect our health. Being able to tell the difference is one of the toughest problems in genetics.’’

• Xiaoming Liu