This page lists the public career record of Dylan Lawless. Selected achievements across projects and collaborations are organised under the STAR framework page. Curated professional profiles are available on the profile pages.
Employment and training (7)
Universitäts-Kinderspital Zürich (University Children's Hospital Zurich) — Translational Medicine Researcher
Clinical genomics, multi-omics, and paediatric critical care. Swiss Pediatric Sepsis Study and SwissPedHealth National Data Stream. Precision medicine and University Hospital clinical decision support.
EPFL — Global Health Institute — Postdoctoral Researcher
Human genomics of infection and immunity. Population cohorts at biobank scale. Study design, international collaboration, reproducible workflows, mentoring.
University of Leeds — School of Medicine and St. James's University Hospital — PhD in Medicine and genetics
Rare immune disease discovery, genomic interpretation, and functional validation. Several new diseases discovered leading to changes IUIS classification. Precision medicine and University Hospital clinical decision support. Bioinformatics with molecular biology validation.
ACM Global Laboratories — Bioanalytical Scientist
Regulated bioanalytical laboratory serving global clinical trial programmes. GCP/GLP-adjacent quality standards. Biomarker and assay workflows.
EPFL — Ablasser Lab — Postgraduate Researcher — Innate Immunity
cGAS-STING innate immune signalling. Wet-lab functional immunology.
Trinity College Dublin — MSc Immunology
First class honours.
University College Cork — BSc Biochemistry and Microbiology
Published articles (15)
Archipelago method for variant set association test statistics . Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Luregn J. Schlapbach, Jacques Fellay. Genetic Epidemiology, 50(1), e70025, January 2026. DOI: 10.1002/gepi.70025. Preprint.
Application of qualifying variants for genomic analysis . Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Simon Boutry, Veronika Stadler, Sabine Österle, Jan Armida, David Haerry, D. Sean Froese, Luregn J. Schlapbach, Jacques Fellay. Bioinformatics, 42(2), btaf676, January 2026. DOI: 10.1093/bioinformatics/btaf676. Preprint.
PanelAppRex aggregates disease gene panels and facilitates sophisticated search . Quant Group, Simon Boutry, Ali Saadat, Sinisa Savic, Luregn J. Schlapbach, Jacques Fellay, Dylan Lawless. Bioinformatics Advances, May 2026. DOI: 10.1093/bioadv/vbag115. Preprint.
A practical guide to diagnosing immunodeficiency . Maarja Soomann, Austen Worth, Dylan Lawless, Johannes Trück. Pediatric Infectious Disease Journal, 44(10), e374-e377, July 2025. DOI: 10.1097/INF.0000000000004904.
Reply to Dages et al: You AIn't using it right, artificial intelligence progress in allergy . Dylan Lawless. Journal of Allergy and Clinical Immunology, 153(1), 355-356, January 2024. DOI: 10.1016/j.jaci.2023.09.023.
Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor . Dylan Lawless, Hana Lango Allen, James E. D. Thaventhiran, Sarah Goddard, Oliver S. Burren, Evie Robson, Daniel Peckham, Kenneth G. C. Smith, Sinisa Savic. Journal of Allergy and Clinical Immunology, 152(1), 257-265, July 2023. DOI: 10.1016/j.jaci.2023.01.035.
Viral genetic determinants of prolonged respiratory syncytial virus infection among infants in a healthy term birth cohort . Dylan Lawless, Christopher G. McKennan, Suman R. Das, Thomas Junier, Zhi Ming Xu, Larry J. Anderson, Tebeb Gebretsadik, Meghan H. Shilts, Emma Larkin, Christian Rosas-Salazar, James D. Chappell, Jacques Fellay, Tina V. Hartert. The Journal of Infectious Diseases, 227(10), 1194-1202, November 2022. DOI: 10.1093/infdis/jiac442.
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder . Beibei Wu, Laura Rice, Jennifer Shrimpton, Dylan Lawless, Kieran Walker, Clive Carter, Lynn McKeown, Rashida Anwar, Gina M. Doody, Sonal Srikanth, Yousang Gwack, Sinisa Savic. eLife, 10, December 2021. DOI: 10.7554/eLife.72559.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma . Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, Karin R. Engelhardt, Gina Doody, Jennifer Shrimpton, Anne Rensing-Ehl, Stephan Ehl, Frederic Rieux-Laucat, Catherine Cargo, Helen Griffin, Aneta Mikulasova, Meghan Acres, Neil V. Morgan, James A. Poulter, Eamonn G. Sheridan, Philip Chetcuti, Sean O'Riordan, Rashida Anwar, Clive R. Carter, Stefan Przyborski, Kevin Windebank, Andrew J. Cant, Majlinda Lako, Chris M. Bacon, Sinisa Savic, Sophie Hambleton. Blood, 136(9), 1055-1066, August 2020. DOI: 10.1182/blood.2020005844.
A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination . Daniel T. Thwaites, Clive Carter, Dylan Lawless, Sinisa Savic, Joan M. Boyes. Blood, 133(8), 820-829, February 2019. DOI: 10.1182/blood-2018-07-866939.
Predicting the occurrence of variants in RAG1 and RAG2 . Dylan Lawless, Hana Lango Allen, James Thaventhiran, Flavia Hodel, Rashida Anwar, Jacques Fellay, Jolan E. Walter, Sinisa Savic. Journal of Clinical Immunology, 39(7), 688-701, August 2019. DOI: 10.1007/s10875-019-00670-z.
Expanding clinical phenotype and novel insights into the pathogenesis of ICOS deficiency . Hassan Abolhassani, Yasser M. El-Sherbiny, Gururaj Arumugakani, Clive Carter, Stephen Richards, Dylan Lawless, Philip Wood, Matthew Buckland, Marzieh Heydarzadeh, Asghar Aghamohammadi, Sophie Hambleton, Lennart Hammarström, Siobhan O. Burns, Rainer Doffinger, Sinisa Savic. Journal of Clinical Immunology, 40(2), 277-288, December 2019. DOI: 10.1007/s10875-019-00735-z.
Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency . Dylan Lawless, Christopher B. Geier, Jennifer R. Farmer, Hana Lango Allen, Daniel Thwaites, Fatma Atschekzei, Michael Brown, David Buchbinder, Siobhan O. Burns, Manish J. Butte, Krisztian Csomos, Sai V. V. Deevi, William Egner, Stephan Ehl, Sinisa Savic. Journal of Allergy and Clinical Immunology, February 2018. DOI: 10.1016/j.jaci.2018.02.007.
A case of adult-onset Still's disease caused by a novel splicing mutation in TNFAIP3 successfully treated with tocilizumab . Dylan Lawless, Shelly Pathak, Thomas Edward Scambler, Lylia Ouboussad, Rashida Anwar, Sinisa Savic. Frontiers in Immunology, 9, July 2018. DOI: 10.3389/fimmu.2018.01527.
Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation . Seth L. Masters, V. Lagou, Isabelle Jéru, P. J. Baker, L. Van Eyck, D. A. Parry, Dylan Lawless, D. De Nardo, J. E. Garcia-Perez, L. F. Dagley, C. L. Holley, J. Dooley, F. Moghaddas, E. Pasciuto, P. Y. Jeandel, R. Sciot, D. Lyras, A. I. Webb, S. E. Nicholson, L. De Somer, E. Van Nieuwenhove, J. Ruuth-Praz, B. Copin, E. Cochet, M. Medlej-Hashim, A. Megarbane, K. Schroder, Sinisa Savic, A. Goris, S. Amselem, C. Wouters, A. Liston. Science Translational Medicine, 8(332) 2016. DOI: 10.1126/scitranslmed.aaf1471.
Accepted (in press) (1)
Genome-wide association study of pediatric bacteremia and sepsis . Dylan Lawless, Flavia Aurelia Hodel, Christian W. Thorball, Zhi Ming Xu, Alessandro Borghesi, Eric Giannoni, Johannes Trück, Martin Stocker, Klara M. Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian R. Kahlert, Giancarlo Natalucci, Christa Relly, Christoph Berger, Thomas Riedel, Christoph Aebi, Philipp Agyeman, Jacques Fellay, Luregn J. Schlapbach, for the Swiss Pediatric Sepsis Study Group. The Lancet eBioMedicine 2026. DOI: 10.1016/j.ebiom.2026.106320. Preprint. accepted
Preprints and in progress (7)
Rare variants in infection response protein pathways associated with sepsis in children . Dylan Lawless, Pauline Rogg, Manon Bouzereau, Robin Fallegger, Zaira Seferbekova, Valeriia Timonina, Konstantin Popadin, Ali Saadat, Zhi Ming Xu, Simon Boutry, Christian W. Thorball, Flavia Hodel, Alessandro Borghesi, Johannes Trück, Martin Stocker, Klara M. Posfay-Barbe, Ulrich Heininger, Sara Bernhard-Stirnemann, Anita Niederer-Loher, Christian Kahlert, Giancarlo Natalucci, Christa Relly, Thomas Riedel, Christoph Aebi, Christoph Berger, Eric Giannoni, Philipp Agyeman, Jacques Fellay, Luregn J. Schlapbach, the Swiss Pediatric Sepsis Study. Preprint: 10.1101/2025.06.12.25329504. under review
Hardy-Weinberg a century later and new horizons in clinical genomics . Dylan Lawless. 2025. under review
Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity . Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless. 2025. Preprint: 10.1101/2025.03.25.25324607. under review
A Bayesian model for quantifying genomic variant evidence sufficiency in Mendelian disease . Quant Group, Ali Saadat, Veronika Stadler, Cornelia Hagmann, Maarja Soomann, Lars Malmström, Shweta Pipaliya, Jacques Fellay, Dylan Lawless. 2025. Preprint: 10.64898/2025.12.02.25341503. under review
An actor-critic reinforcement learning framework for variant evidence interpretation . Dylan Lawless. 2025. Preprint: 10.1101/2025.03.14.25323954. preprint
A Bayesian reference model for genetic variant interpretation . Dylan Lawless. 2025. in progress
A systematic review of quantitative Bayesian variant causality . Dylan Lawless. 2025. in progress
Software and tools (8)
Archipelago — Visualising variant set association test results
Published Genetic Epidemiology 2026. CRAN DOI 10.32614/CRAN.package.archipelago.
PanelAppRex AI — Harmonised disease-gene panels from structured clinical and genetic queries
Demo page: panelapprex.github.io/landing_page. 6.6M features compressed 5x.
Qualifying Variant Database — Reusable YAML criteria defining reproducible genomic variant interpretation standards
QuantBayes (R package) — Bayesian quantification of evidence sufficiency from binary evidence matrices
Released CRAN 20251212. Underpins QuantBayes Studio at quantbayes.com.
QuantBayes (macOS and Linux binaries) — Standalone QuantBayes binaries for macOS (Intel x86_64 and Apple Silicon arm64) and Linux x86_64
Released Zenodo 20251213. MIT licence. Checksums provided.
VCFheader (R package) — Fast VCF file header intelligence and audit
Released CRAN 20260301.
VCFheader (macOS and Linux binaries) — Fast VCF file header intelligence and audit — command-line binary for macOS and Linux
Released Zenodo 20260301.
evidenceratio (R package) — Likelihood-based evidence ratios for classical statistical tests
Released CRAN 20260115. Implements the ERRS standard.
Datasets and data depositions (1)
SPSS GWAS catalogue entry — GWAS summary statistics for genome-wide association study of pediatric bacteremia and sepsis
Summary statistics deposited in EBI GWAS Catalogue.
Standards (2)
Evidence Ratio Reporting Standard (ERRS) — Normative standard for likelihood-based evidential reporting — defines a unified triplet of effect estimate, uncertainty interval, and evidence ratio
Implemented in the evidenceratio R package. Designed for cross-study comparability in clinical, biomedical, and statistical research.
Qualifying Evidence Matrix (QEM) standard — Normative binary matrix format for verifiable evidence derived from rule-based evaluations, pipeline-independent and institution-neutral
Defines QEM as a pipeline-independent, institution-neutral binary matrix for evidence availability. Owned by the Swiss Genomics Association.
Funding and grants (7)
GenomeSwift — Precision medicine in Kispi through rapid and automated genome analysis
Unsuccessful. Proposal covered automated WGS pipeline with AI-assisted variant interpretation (DeepSeek R1, Ollama).
Pediatric Personalized Research Network Switzerland (SwissPedHealth) — Joint Pediatric National Data Stream
Multi-institutional programme across UZH, ETHZ, UniBE, HUG, CHUV, EPFL and five children's hospitals.
Derivation of pediatric sepsis phenotypes using machine learning applied to clinical, functional and genomic data from the Swiss Pediatric Sepsis Study
Host susceptibility to respiratory syncytial virus infection during infancy
RSV GWAS in birth cohort. US-Swiss collaboration.
Host-pathogen genomic interactions and their phenotypic impact in human tuberculosis
Tanzania TB cohort. 1,200 patients. Joint host-pathogen genome analysis.
The interplay between human genetic variation, persistent infections and chronic inflammation: relevance for cardiovascular and neuropsychiatric morbidity
CoLaus cohort. 5,000 participants. GWAS of immune responses to persistent infections.
Data Science and Machine Learning in Predictive Genomics
Competitive award. Cloud computing credits for genomic data science and ML.
Conferences and presentations (29)
From multiomic discovery to real-time rapid diagnostics
Quantifying variant evidence for precise, probabilistic genomics
Quantifying variant evidence for precise, probabilistic genomics
From multiomic discovery to real-time rapid diagnostics: Pediatric sepsis and rare diseases at the children's hospital
Selected as highlight talk.
A century-old problem in genetics solved by big data, Bayesian inference, and AI-driven diagnostics in SwissPedHealth
SwissPedHealth Lighthouse Project's Prospective Study: Multi-Omics for Rare Disease Diagnosis
SwissPedHealth The Lighthouse Project's Retrospective Study: Multi-Omics Insights from Biobanked Samples
Uncovering novel genetic factors of pediatric sepsis through new tools for precision genomic medicine
Research prize awarded.
Rare variant discovery by protein pathway analysis
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation
Human genomics of respiratory infection
Genomic approaches to infection and immune disease
Human genomics of infection and immunity
Human genomics of infection and immunity
Genome-wide association study of susceptibility to respiratory syncytial virus infection during infancy
Genome-wide association study of susceptibility to respiratory syncytial virus infection during infancy
Rare variants in antiviral response genes drive severe viral respiratory infections in children
Rare genetic variants associated with sepsis in intensive care
Rare immune disease genetics and genomic interpretation
Translational data infrastructure for genomic research
Genome privacy and genomic data infrastructure
Genomic data sharing and privacy in the Global Alliance
Cloud computing for genomic data analysis
Immunogenomics of rare immune disease
Visitor research grant awarded.
Genomic approaches to autoinflammatory disease
Rare genetic variants in primary immunodeficiency
Genomic approaches to primary immunodeficiency
Rare immune disease genetics
Innate immune signalling and disease
Awards (7)
AWS Research Funding — Amazon Web Services
Research prize — FKZ Children's Research Centre 12th Symposium, University of Zurich
Awarded for talk: Uncovering novel genetic factors of pediatric sepsis through new tools for precision genomic medicine.
Best poster candidate — European Society of Human Genetics
Microsoft Azure Research Award — Microsoft Research
Data Science and Machine Learning in Predictive Genomics.
Visitor Research Grant — Wellcome Genome Campus, Cambridge
110th Anniversary Postgraduate Research Scholarship — University of Leeds
Competitive PhD scholarship.
1st place Postgraduate Poster Prize — Trinity College Dublin
Scientific service and leadership (4)
Switzerland Omics — Founder of a scientific product company translating probabilistic genomics, clinical data infrastructure, and biomedical software into deployed products
Built the Switzerland Omics product ecosystem including QuantBayes Studio, PanelAppRex, Genomic Vault, and Variant Impact.
Swiss Genomics Association — Independent scientific association issuing normative standards for genomic evidence and reporting
Founded the SGA as a neutral standards body. Issued QEM and ERRS standards. Members span Swiss academic, clinical, and industry bioinformatics.
Quantitative Omics Epidemiology Group (Quant Group) — Founder and lead of a research group delivering validated, reusable genomics infrastructure for clinical and translational multi-omics
Founded by collaboration in UZH, EPFL, and others. Delivered lead and senior-author publications, CRAN software, clinical diagnostic workflows, and cross-institutional infrastructure.
EPFL — BIO-491 New Tools and Research Strategies in Personalized Health — Master-level course introducing personalized health technologies, legal and ethical challenges, and research strategies. Course led by Prof. Jacques Fellay and Prof. Marc Friedli, Life Sciences Engineering programme.
Annual guest lectures across four consecutive years. Spring semester, 2 hours per week format. Topics drawn from human genomics of infection, immunity, and precision medicine.
Websites and platforms (6)
Genomic Vault — Long-term custody and controlled access platform for genomics and precision medicine data
Encrypted storage, immutable audit logs, Stripe-integrated payments, SPHN-compliant RDF metadata.
QuantBayes Studio — Commercial evidence platform — turns analysis outputs into evidence-based conclusions with Bayesian posterior intervals
Commercial spin-off from QuantBayes R engine.
Swiss Genomics Association — Independent scientific association owning and issuing genomic evidence standards including QEM and ERRS
Founded by Dylan Lawless. Issues normative standards. Neutral governance body for QEM and ERRS.
SwissPedHealth — Public web presence for the SwissPedHealth National Data Stream programme
Built and maintained as part of SwissPedHealth national programme.
Switzerland Omics — Scientific product environment for probabilistic genomics, evidence infrastructure, and biomedical data systems
Primary public presence for Switzerland Omics. Hosts technology pages, documentation, and product interfaces.
Variant Impact — Protein variant interpretation platform integrating gnomAD, UniProt, ClinVar, AlphaFold, and RCSB PDB with Molstar 3D structure viewer
Demonstrates fullstack molecular informatics: Next.js, React, TypeScript, Molstar, variant landscape heatmaps.
Media and videos (4)
PanelAppRex — Published video for PanelAppRex — harmonised disease-gene panels from structured clinical and genetic queries
Archipelago plots bring variant set and single variant associations into one genomic view — Published video introducing the Archipelago method for visualising variant set association test statistics alongside single-variant results
QuantScan — Published video demonstrating QuantBayes probabilistic genomic interpretation — Bayesian posterior intervals for variant evidence sufficiency
Qualifying variant database for genomic variant interpretation — Published video introducing the qualifying variant database — reusable YAML criteria for reproducible genomic variant interpretation
