ASHG 2026 · Hospital & health system

Radboud University Medical Center at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Nijmegen, Netherlands

Radboud University Medical Center at ASHG 2026 in Montréal: 5 presentations (4 posters, 1 platform talk); 3 research groups.

presentations on the program

research groups identified

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Radboud University Medical Center Nijmegen, Netherlands	2 PIs · 2 Postdocs
Genomic Technologies and Immuno-Genomicsimmuno-genomics.com Wet + dry lab~10 people Applies optical genome mapping, HiFi long-read sequencing, MIPs and IsoSeq to rare-disease cases. Develops diagnostics for inborn errors of immunity. 43 papers since 2024 › Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Nature Medicine, 2025 HiFi long-read genomes for difficult-to-detect, clinically relevant variants The American Journal of Human Genetics, 2025 A framework for the clinical implementation of optical genome mapping in hematologic malignancies American Journal of Hematology, 2024 Source: OpenAlex author A5031507114 Funded by ZonMW, PPP +3 more › ERDERA, WP8 · 2024-2031 “ERDERA (WP8 co-lead) (2024-2031)” ZonMW, VICI grant: Solve-IEI · 2024-2029 “ZonMW VICI grant: Solve-IEI (2024-2029)” PPP, OGM-NGC · 2024-2027 “PPP OGM-NGC (2024-2027) co-PI [name]” +2 more on the lab page Source: lab pages 13 platforms and techniques › Works with Samplix Xdrop Sort, Targeted Iso-Seq, smMIPs, PacBio HiFi long-read sequencing, Optical genome mapping, Single-cell RNA sequencing, Whole-exome sequencing Techniques Rare-disease gene identification, Rare-disease data re-analysis, Epigenome and transcriptome analysis, Somatic mutation detection, Clonal hematopoiesis, Multi-omics Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Mutations we almost missed – long-read genome sequencing in phenotypically highly selected rare disease cases Mendelian Phenotypes Long-read sequencingMendelian disorderRare variantsCopy number/structural variation Talk Thu Oct 22 9:30 am Clinical long-read genome sequencing for rare disease diagnostics – a prospectively designed study of 1,000 genomes The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic Collaborators: Maastricht University Medical Centre Clinical testingLong-read sequencingMendelian disorderRare variants Poster Fri Oct 23 2:30 pm HiFi sequencing accurately identifies clinically relevant variants in paralogous genes Omics Technologies Collaborators: University of Lübeck, Pacific Biosciences Long-read sequencingClinical testingVariant callingCopy number/structural variation
Department of Human Geneticsradboudumc.nl/en/about-radboudumc/organizational-chart-and-departments Wet lab Investigates inherited disorders using short- and long-read sequencing and developmental systems. Supports hereditary-disease diagnosis and novel disease-gene discovery. Funded by NWO › NWO, Veni grant / NWO Talent Programme · active “The Veni grant is part of the NWO Talent Programme.” Source: lab pages 8 platforms and techniques › Runs long-read genome sequencing Techniques biochemistry, molecular biology, cell biology, Drosophila melanogaster, zebrafish, mouse, de novo assembly Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Partial NMD targeting contributes to incomplete penetrance of inherited protein-truncating variants in severe developmental disorders Molecular Effects of Genetic Variation Collaborators: Wellcome Sanger Institute, University of Exeter Alternative splicingComputational toolsExome/genome sequencingGenetic variation
Genome bioinformaticsradboudumc.nl/en/research/research-groups/genome-bioinformatics Dry lab Analyzes short-read WES/WGS, PacBio long-read and long-read RNA-sequencing data with bioinformatics and AI algorithms. Supports patient diagnostics and discovery of genetic causes of disease. 29 papers since 2024 › Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Nature Medicine, 2025 HiFi long-read genomes for difficult-to-detect, clinically relevant variants The American Journal of Human Genetics, 2025 Genome sequencing as a generic diagnostic strategy for rare disease Genome Medicine, 2024 Source: OpenAlex author A5029378448 Funded by NWO › NWO, Veni and Vidi grant “Some of the major prizes and grants he has been awarded include a Veni and Vidi grant from NWO” Source: lab pages 12 platforms and techniques › Analyzes Short-read whole exome sequencing (SR-WES), Short-read whole genome sequencing (SR-WGS), PacBio whole-genome long-read sequencing, Long-read RNA-sequencing, ONT sequencing Techniques Quality control, Alignment, Variant calling, De novo mutation detection, CNV/SV detection, Annotation, Graphical user interface for variant interpretation Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Mechanisms of CNV formation at the human 15q13.3 locus Evolutionary and Population Genetics Collaborators: University of Washington, University of Naples Federico II +1 more Copy number/structural variationGenomic structureLong-read sequencingNeurodevelopmental

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