Research
Translating human genetics into validated drug targets and biomarkers.
My research turns population-scale human biology into therapeutic decisions — identifying which targets are worth pursuing and which patients a medicine can help.
Research Themes
Translational Genetics
Human-genetics-driven target identification and validation across the druggable genome, de-risking discovery with population evidence.
Epigenetics & Methylomics
Genome-wide methylation, methylation haplotype blocks, cell-free DNA, and aging clocks for diagnosis, tissue-of-origin, and prognosis.
Statistical Genetics & GWAS
Association, rare-variant and gene-based methods (SKAT, recessive diplotype) across biobanks — UK Biobank, eMERGE, PMRP, TCGA, GTEx.
Data Science & AI/ML
Scalable bioinformatics pipelines and predictive models that turn multi-omic and clinical big data into program decisions.
Projects & Methods
Gene-based Recessive Diplotype Scan (2ALOF)
An open-source rare-variant association framework for compound-heterozygous and recessive models that discovered FGF6 in iron metabolism.
Methylation Haplotype Block Analysis
Pipelines for defining methylation haplotype blocks and deconvolving tissue-of-origin from cell-free DNA methylation data.
GWAS & Biobank Analysis Toolkit
Reproducible workflows for genome-wide association across UK Biobank, eMERGE, and PMRP — PLINK, bcftools, and rank-based inverse-normal transformation utilities.
Druggable Genome & Target Identification
Human-genetics-driven target identification and validation, integrating the druggable genome with biobank evidence to de-risk therapeutic programs.