Computational Biology & Translational Genomics Consulting
Providing computational biology support since 2010
I am a computational biologist and bioinformatician specialising in human genomic data analysis, rare disease research, and phenotype-driven interpretation of sequencing data. My work focuses on robust, reproducible analysis of WGS/WES and targeted panel datasets, with particular attention to quality control, uncertainty, and scientific interpretation in translational research settings.
I support pharma, biotech, and research teams with computational biology and translational genomics projects. I help translate complex genomic and phenotype data into clear, well-documented analyses for variant interpretation, cohort stratification, biomarker-oriented research, and scientific decision-making.
Areas of Expertise
Translational Genomics
Analysis and interpretation of genomic data in the context of human disease, clinical research, and precision medicine. I support projects ranging from variant discovery and prioritization to cohort-level analyses integrating genomic, phenotypic, and clinical information.
Genotype–Phenotype Integration
Development of analytical approaches that connect genomic variation with clinical and phenotypic data. This includes phenotype harmonization, patient stratification, biomarker discovery, and the application of biomedical ontologies to support translational research.
Genetic Epidemiology & Risk Prediction
Analysis of the genetic architecture of complex traits and diseases using population-scale genomic datasets, including genome-wide association studies (GWAS), polygenic risk scores (PRS), population stratification, genetic risk prediction, and interpretation of disease-associated genetic variation.
Pharmacogenomics & Population Diversity
Investigation of genetic factors influencing drug response, efficacy, and safety across diverse populations. This includes population-genetic analyses of pharmacogenomic loci, characterization of genetic diversity, ancestry-informed interpretation, and support for precision medicine initiatives.
Complex Genomic Regions & Long-Read Sequencing
Specialized analysis of structurally complex genomic loci, repetitive regions, and long-read sequencing data. Experience includes haplotype-resolved analyses, structural variation, tandem repeats, and custom computational approaches for challenging genomic regions.
Reproducible Computational Genomics
Design and implementation of robust, scalable, and reproducible computational workflows for genomics research. This includes workflow development, cloud and HPC deployment, automation of analytical pipelines, and support for collaborative research environments.
How I Work
I collaborate with research groups, biotechnology companies, and translational medicine teams on projects involving genomic data analysis, computational method development, and study design.
Engagements may range from targeted scientific consulting and workflow development to longer-term research collaborations, providing analytical expertise across the full lifecycle of genomics projects.
Areas of support include:
Scientific consulting and analytical strategy
Genomic data analysis and interpretation
Workflow and pipeline development
Method development for complex genomic problems
Research collaboration and publication support