ASHG 2026 · Hospital & health system

Rigshospitalet at ASHG 2026

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

Copenhagen, Denmark

Rigshospitalet at ASHG 2026 in Montréal: 5 presentations (5 posters); 5 research groups.

presentations on the program

research groups identified

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Organization	ASHG 2026 Attendance
Rigshospitalet Copenhagen, Denmark	2 Staff Scientists · 1 PhD Student
Department of Clinical Genetics – Kennedy Centerrigshospitalet.dk/english/departments/centre-of-diagnostic-investigation/department-of-clinical-genetics/pages/default.aspx Wet lab~20 people Performs Sanger sequencing, whole-exome sequencing, non-invasive prenatal testing and gene-panel analyses. Research targets disease-causing mutations for personalized medicine, counselling and treatment. 8 platforms and techniques › Runs Sanger sequencing, Whole-exome sequencing (WES), Non-invasive prenatal testing (NIPT), Gene panels Techniques Clinical genetic counselling, Molecular genetic testing, Induced pluripotent stem cells (iPSC), Genotype-phenotype correlation Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm STRC is a major cause of hearing impairment in a Danish cohort: improved detection using long-read sequencing Laboratory Genetics and Genomics Collaborators: Copenhagen University Hospital, University of Copenhagen Genotype-phenotype correlationsVariant interpretationSensory disordersGenetic testing
Molecular Genetics and Cytogenetics – NGSrigshospitalet.dk/english/departments/centre-of-diagnostic-investigation/department-of-clinical-genetics/research/Pages/research-overview.aspx Wet lab~9 people Runs molecular diagnostic assays using whole exome sequencing, non-invasive prenatal testing and gene panels. Research evaluates variants of unknown significance in disease pathogenesis. 6 platforms and techniques › Runs Whole exome sequencing (WES), Non-invasive prenatal testing (NIPT), Gene panels, Classic cytogenetics, Sanger sequencing Techniques Variants of unknown significance evaluation Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm Case report of siblings with Lopes-Maciel-Rodan syndrome - Phenotypic and Functional RNA Characterization of a Rare Neurodevelopmental Disorder. Mendelian Phenotypes Collaborators: Copenhagen University Hospital, Herlev Hospital Clinical geneticsAlternative splicingIntellectual and developmental disabilityNeurodevelopmental
Scientific Team - Analyticschip.dk/organisation/staff Dry lab~66 people Analyzes PERSIMUNE Data Warehouse clinical, genetic and molecular data with machine learning and multi-omics. Identifies biomarkers and stratifies patients through biobanks and international networks. 45 papers since 2024 › Trends in Mortality in People With HIV From 1999 through 2020: A Multicohort Collaboration Clinical Infectious Diseases, 2024 Viral and Host Factors Are Associated With Mortality in Hospitalized Patients With COVID-19 Clinical Infectious Diseases, 2024 SARS-CoV-2 RNA and Nucleocapsid Antigen Are Blood Biomarkers Associated With Severe Disease Outcomes That Improve in Response to Remdesivir The Journal of Infectious Diseases, 2024 Source: OpenAlex author A5080120008 Funded by Danish National Research Foundation, National Institute of Allergy and Infectious Diseases › National Institute of Allergy and Infectious Diseases, INSIGHT · 1998 “which is funded by the National Institute of Allergy and Infectious Diseases in the US.” Danish National Research Foundation, PERSIMUNE Centre of Excellence · Starting February 1, 2015; full 10-year period “Originally, PERSIMUNE received a 60 MDKK (8 MEUR) award from the DNRF over a six-year period starting February 1, 2015.” Source: lab pages 9 platforms and techniques › Analyzes PERSIMUNE Data Warehouse, PERSIMUNE biobank Techniques Machine learning, Multi-omics integration, Pattern recognition from routine-care data, Host and microbial genetics, Imaging, Immunological characterization, DNA extraction from whole blood Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm A proteogenomic approach for the prediction of persistently elevated IL-6 levels in people with HIV Statistical Genetics and Genetic Epidemiology Collaborators: Copenhagen University Hospital, University College London GenomicsInfectious diseasePolygenic risk score
Center for Genomic Medicine Works in population genetics and computational genetics.	Poster Thu Oct 22 4:15 pm A Fast Open-Source Modeling System for Population-Scale Biology Artificial Intelligence and Machine Learning Collaborators: Carnegie Mellon University, Université Grenoble Alpes +1 more Genotype-phenotype correlationsBioinformaticsComplex diseasesComputational tools
MDxCore DIA Works in cancer genetics and clinical genetics.	Poster Fri Oct 23 2:30 pm Evaluating the diagnostic benefit of variant effect predictors for somatic gain-of-function variants in precision oncology Cancer Collaborators: Copenhagen University Hospital, University of Copenhagen CancerPrecision medicineSomatic variantsVariant interpretation

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