Candidate variants do not become clinical evidence by themselves.
Rare disease interpretation often needs experimental and computational evidence to meet. My background includes disease genetics in immunology, oncology, infectious disease, molecular biology, functional validation, and mechanism-led clinical interpretation.
WGS, inheritance models, phenotype matching, ACMG-style classification logic, disease-gene validity, allele frequency, segregation, and prior evidence need to support one defensible conclusion.
Rare disease interpretation often needs experimental and computational evidence to meet. My background includes disease genetics in immunonology, oncology, infectious diseases, molecular biology, functional validation, and mechanism-led clinical interpretation.
DNA, RNA-seq, proteomics, metabolomics, outlier detection, and phenotype-linked molecular data need a structured layer that turns assay output into patient-level evidence.
Rare disease workflows need reports, panels, priors, pipelines, and databases that can be inspected, versioned, audited, and reused beyond the first case review.
Qualifying variant database. The open standard for variant interpretation, with trusted QV sets to enhance clarity and reproducibility in genetics.
PanelAppRex AI. Harmonised disease-gene panels from structured clinical and genetic queries. For humans and for machines.
Whole-genome sequencing, rare variant interpretation, ACMG-style evidence logic, inheritance models, disease-gene validity, allele frequency, phenotype matching, segregation, and diagnostic review.
RNA-seq, proteomics, metabolomics, biomarker workflows, outlier analysis, patient stratification, molecular integration, Illumina sequencing contexts, regulated clinical assay environments, and experimental-computational interpretation.
Bayesian inference, prior probabilities, posterior intervals, uncertainty quantification, cohort analysis, rare variant testing, high-dimensional modelling, Monte Carlo and resampling methods, and evidence sufficiency.
Good Clinical Practice, GLP-aware laboratory delivery, ICH-aligned documentation discipline, audit-ready workflows, traceability, secure computing, versioned pipelines, and structured reporting.
R, Python, Bash, SQL, PostgreSQL, Git, Unix, high-performance computing, AWS, Azure, Docker, Singularity or Apptainer, Nextflow, Snakemake, and reproducible analytical frameworks.
Clinical data systems, EHR-linked workflows, controlled file transfer, machine-readable outputs, HTML reporting, APIs, Next.js, React, TypeScript, Supabase, and authenticated scientific software.
PanelAppRex AI: harmonised disease-gene panels from structured clinical and genetic queries, preprinted in Quant Group et al (2025). 
QuantBayes: standardises how evidence strength is expressed - quantifying genomic variant evidence sufficiency with Bayesian posterior intervals, preprinted in Quant Group et al (2025) .
Qualifying variant database: the open standard for variant interpretation. Defining reusable YAML criteria for reproducible genomic variant interpretation, published in Lawless et al (2026).
IEI genetics database: genetic panels and prior probabilities for disease-causing variants in inborn errors of immunity, preprinted in Lawless et al (2025).
ORCID record:
0000-0001-8496-3725
Application of qualifying variants for genomic analysis. Bioinformatics, 42(2), btaf676, 2026.
Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency. Journal of Allergy and Clinical Immunology, (), , 2018.
Predicting the occurrence of variants in RAG1 and RAG2. Journal of Clinical Immunology, 39(7), 688-701, 2019.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood, 136(9), 1055-1066, 2020.
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Science Translational Medicine, 8(332), , 2016.
Lead computational and translational analyses within the Swiss Pediatric Sepsis Study and SwissPedHealth National Data Stream, CHF 1M and CHF 5M multi-institutional programmes across three hospitals.
WGS, RNA-seq, proteomics, metabolomics, EHR-linked data, approximately 1,000 children, more than 100 TB of biomedical data, reproducible R and Python workflows, secure HPC environments.
Developed statistical genetics, computational biology, and multi-omic workflows across infectious, inflammatory, and translational cohort studies supported by more than CHF 3M in competitive research funding.
Cohorts up to 5,000 participants, sepsis, tuberculosis, asthma, infectious disease, chronic inflammatory disease, rare variant testing, Bayesian reasoning, population statistical genetics.
Led genomic discovery and functional validation in severe immune-mediated disease within a translational hospital setting.
Approximately 500 severe clinical cases, genome sequencing, molecular biology, clinical interpretation, treatment-related findings, germline TET2 deficiency, IUIS disease classification.
Rare disease and precision medicine teams need evidence that supports review. The useful output is not another filtered variant list, but a traceable conclusion linking phenotype, mechanism, molecular evidence, and uncertainty.
