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.

OrganizationASHG 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
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.
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
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
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
Collaborators: Copenhagen University Hospital, University of Copenhagen
CancerPrecision medicineSomatic variantsVariant interpretation

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