Song Sun

The paper creates a functional map of all possible missense variants in CHK2 to assess their impact on cancer risk.

satmut_utils is a tool for simulating and analyzing saturation mutagenesis data, showing that single-codon variants can alter mRNA abundance and demonstrating improved variant calling performance.

This study creates a variant effect map for GDI1 missense variants using functional assays and machine learning to distinguish pathogenic from benign variants.

The paper measures the effects of VKOR variants on abundance and activity in human cells, revealing its topology, active site, and the impact of human variants.

The paper creates a proactive map of CBS gene variant function and vitamin B6 response using yeast assays, predicting disease severity and therapy effectiveness.

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

This paper develops a deep mutational scanning framework to map functional missense variants in human genes and applies it to four proteins, identifying pathogenic variants and showing scalability to disease genes.