Pui‐Mun Wong

Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA

The paper benchmarks 9 somatic variant calling algorithms on cfDNA samples from cancer patients, identifying optimal methods based on ctDNA levels and sequencing depth.

A Computational Framework for Analysis of cfDNA Fragmentation Profiles

This study introduces NDRDiff, a computational framework for analyzing cfDNA fragmentation profiles to infer gene expression and identify differentially expressed genes in cancer.

Fragle: Universal ctDNA quantification using deep learning of fragmentomic profiles

Fragle quantifies ctDNA from fragment length profiles using deep learning, showing high accuracy and improved detection limits across multiple datasets and sequencing types.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

Heatrich-BS enables efficient CpG enrichment and highly scalable cell-free DNA methylation profiling