Sarah Boon Hsi Ng

A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell lines

This study benchmarks Nanopore long read RNA sequencing in human cell lines, showing improved isoform resolution compared to short reads.

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.

Detection of differential RNA modifications from direct RNA sequencing of human cell lines

This paper introduces xPore, a method to detect differential RNA modifications from direct RNA sequencing, showing it identifies m6A sites with single base resolution and quantifies modification rate differences across cell lines.

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

Detection of genomic alterations in breast cancer with circulating tumour DNA sequencing

This paper develops a targeted cfDNA sequencing approach for detecting genomic alterations in breast cancer using UMIs and bioinformatics pipelines, showing high concordance with tumor sequencing.

Large-scale whole-genome sequencing of three diverse Asian populations in Singapore

This study presents whole-genome sequencing data from 4,810 Singaporeans across three ethnic groups, revealing genetic structure, admixture, and improved imputation for Asian and Oceanian populations.