Rigshospitalet at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Rigshospitalet brings 5 presentations from 5 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, cancer genetics and computational analysis, with clinical and reproductive genetics also represented. Department of Clinical Genetics – Kennedy Center brings long-read sequencing in a Danish hearing-loss cohort, Molecular Genetics and Cytogenetics – NGS brings RNA analysis of a rare neurodevelopmental disorder, and Scientific Team - Analytics brings proteogenomic prediction of persistent IL-6 in people with HIV.
| 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 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.
| 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 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 Runs molecular diagnostic assays using whole exome sequencing, non-invasive prenatal testing and gene panels. Research evaluates variants of unknown significance in disease pathogenesis.
| 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. Clinical geneticsAlternative splicingIntellectual and developmental disabilityNeurodevelopmental |
Scientific Team - Analyticschip.dk/organisation/staff 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.
| Poster Fri Oct 23 2:30 pm A proteogenomic approach for the prediction of persistently elevated IL-6 levels in people with HIV 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 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 CancerPrecision medicineSomatic variantsVariant interpretation |
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