Joanne Yuen Yie Ngeow

Combining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes

Many commonly used computational tools for variant effect prediction exhibit ancestry-related bias because they are trained on clinical or population datasets that under-represent global diversity, leading to uneven and sometimes unfair variant classification across ancestries. M...

Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public

Familial hypercholesterolemia (FH) is a common monogenic disorder associated with elevated low-density lipoprotein cholesterol and premature cardiovascular disease. Despite Singapore's high FH prevalence and the launch of the National FH Genetic Testing Programme in 2025, uptake...