Publications

Flagship technologies

• QuantBayes: A Bayesian model for quantifying genomic variant evidence sufficiency in Mendelian disease. Quant Group, Ali Saadat, Shweta Pipaliya, Dylan Lawless. medRxiv preprint (2025). DOI: 10.1101/2025.12.02.25341503
  DOI | PDF | R package | Application

• Quant: 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. medRxiv preprint (2025). DOI: 10.1101/2025.03.25.25324607
  DOI | PDF | Video

• QV: 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 (2026). DOI: 10.1093/bioinformatics/btaf676
  DOI | Pre-print | PDF | Video | Database

• PanelAppRex: PanelAppRex aggregates disease gene panels and facilitates sophisticated search. Quant Group, Simon Boutry, Ali Saadat, Sinisa Savic, Luregn J. Schlapbach, Jacques Fellay, Dylan Lawless. medRxiv preprint (2025). DOI: 10.1101/2025.03.20.25324319
  Repository | DOI | PDF | Video | Application | Dataset

• Archipelago: Archipelago method for variant set association test statistics. Dylan Lawless, Ali Saadat, Mariam Ait Oumelloul, Luregn J. Schlapbach, Jacques Fellay. Genetic Epidemiology (2026). DOI: 10.1002/gepi.70025
  Preprint | DOI | PDF | Repository | Application

Posters

• 2025-10-23: Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless. A century-old problem in genetics solved by big data, Bayesian inference, and AI-driven diagnostics in SwissPedHealth. FZK/CRC annual retreat, Zürich.

• 2025-09-19: Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless. Quantifying variant evidence for precise, probabilistic genomics. Computational Biology Symposium, Lausanne.
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Conference talks

• 2025-09-19: Dylan Lawless. Quantifying variant evidence for precise, probabilistic genomics. Computational Biology Symposium, Lausanne.

• 2025-09-10: Dylan Lawless. From multiomic discovery to real-time rapid diagnostics: paediatric sepsis and rare diseases at the children’s hospital. Basel Computational Biology Conference, Basel. Highlight talk.

• 2023-10-26: Dylan Lawless. Uncovering novel genetic factors of paediatric sepsis through new tools for precision genomic medicine. 12th FKZ/CRC Children’s Research Centre, Zürich. Prize awarded.

Related

• SPHN RDF Omic: van der Horst, E.; Unni, D.; Kopmels, F.; Armida, J.; Touré, V.; Franke, W.; Crameri, K.; Cirillo, E.; Österle, S. “Bridging Clinical and Genomic Knowledge: An Extension of the SPHN RDF Schema for Seamless Integration and FAIRification of Omics Data.” Preprints.org (2023).
  DOI | PDF