Kian Hong Kock

HARP integrates PBMC data from multiple studies to create a reference atlas with consensus annotations and identifies age, sex, and disease-related cellular modules.

The paper introduces scAtlasTb, a framework for building and optimizing single-cell reference atlases, demonstrating its application on three Human Cell Atlas projects.

The paper presents the first single-cell immune atlas of a Mainland Southeast Asian population, showing genetic ancestry shapes innate immune profiles and highlights sex-by-ancestry interactions in immune activation.

The paper investigates NKX2-5 mutations in congenital heart disease by analyzing their epigenomic, biochemical, and chromatin search functions in cardiomyocytes, revealing diverse loss and gain-of-function defects.

The paper presents AIDA, a diverse single-cell RNA-seq atlas of immune cells, revealing sub-continental diversity impacts on immune cell properties and identifying functional genetic variants.

The paper analyzes DNA binding effects of 92 human homeodomain mutants, identifying 14 novel specificity-determining residues and highlighting limitations of variant effect prediction tools.

The paper introduces scLinaX, a method to quantify X chromosome inactivation escape using scRNA-seq, revealing heterogeneity across cell types and tissues.

Monopogen calls single nucleotide variants from single-cell sequencing data, achieving high accuracy in germline variant detection and enabling ancestry inference and variant association analysis.