ASHG 2026 · Tier 1 Academic

University of Edinburgh at ASHG 2026

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

Edinburgh, UK

University of Edinburgh at ASHG 2026 in Montréal: 5 presentations (4 posters, 1 lightning talk); 3 research groups.

presentations on the program

research groups identified

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
University of Edinburgh Edinburgh, UK	2 Postdocs · 2 PhD Students
Genetic Targets and Precision Medicineprecmed.cphs.mvm.ed.ac.uk Dry lab~6 people Uses deidentified electronic health records, genetic and biomarker data, and GENOSCORES. Prioritizes drug targets and informs diagnosis, prognosis, treatment and drug-safety decisions. Funded by European Foundation for the Study of Diabetes, Diabetes UK +5 more › Diabetes UK, Real-world pharmacoepidemiology of drugs used in diabetes · 2/1/25 → 1/1/2028 “Real-world pharmacoepidemiology of drugs used in diabetes: harnessing e-health records and artificial intelligence. Colhoun H, McKeigue P. Diabetes UK 2/1/25 → 1/1/2028.” European Foundation for the Study of Diabetes, Identifying drug targets for type 1 diabetes by genome-wide aggregated trans-effects analysis · 1/3/26 → 28/2/27 “Identifying drug targets for type 1 diabetes by genome-wide aggregated trans-effects analysis. European Foundation for the Study of Diabetes 1/3/26 → 28/2/27.” Iqvia Ltd, EXCEED · 01/07/21 → 01/05/27 “EXCEED - A Pan-European Post-Authorisation Safety Study: Risk of Pancreatic Cancer Among Type 2 Diabetes Patients who Initiated Exenatide as Compared with those who Initiated Other non-Glucagon-Like Peptide 1 Receptor Agonists Colhoun H, McKeigue P. Iqvia Ltd 01/07/21 → 01/05/27.” +4 more on the lab page Source: lab pages 11 platforms and techniques › Analyzes GENOSCORES, Deidentified electronic-health-record analysis platform, SomaScan, Olink Techniques Statistical genetics, Bayesian methods, Machine learning, Genome-wide aggregated trans-effects analysis, Trans-eQTL analysis, Trans-pQTL analysis, Causal inference Source: lab pages No openings posted	Talk Wed Oct 21 2:03 pm Genome-wide aggregated trans-effects analysis reveals B-cell activation and checkpoint signalling as therapeutic axes in primary biliary cholangitis Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders Collaborators: Toronto General Hospital, Lunenfeld-Tanenbaum Research Institute Genome-wide association studyAutoimmune disorderProteomicsGene regulation Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Genome-wide aggregated trans-effects analysis reveals B-cell activation and checkpoint signalling as therapeutic axes in primary biliary cholangitis Complex Traits and Polygenic Disorders Collaborators: Toronto General Hospital, Lunenfeld-Tanenbaum Research Institute Autoimmune disorderGene regulationGenome-wide association studyIdentification of disease genes Poster Wed Oct 21 2:30 pm From core-gene discovery to mechanism: biological function, accumulating evidence of causality, and rare-variant convergence in essential hypertension Complex Traits and Polygenic Disorders Collaborators: Institute of Genetics and Cancer Cardiovascular systemIdentification of disease genesProteomicsExpression quantitative trait loci
Biomedical Informatics Groupbiomedicalinformaticsgroup.github.io/people Dry lab~15 people Develops statistical and machine-learning methods for whole-genome, RNA-seq and clinical data. Targets rare genetic disease diagnosis, autism and Parkinson’s stratification, and cancer biomarker discovery. 7 papers since 2024 › Drug-Induced Liver Injury Associated with Turmeric and Piperine: A Case and Review Case Reports in Gastroenterology, 2025 Embracing Scientific Debate in Brain Metabolism Journal of Neurochemistry, 2025 Triterpenoid wax esters confirm Ficus religiosa in archaeological sequences within the Mayadevi temple shrine, Lumbini – the birthplace of Buddha Frontiers in Geochemistry, 2025 Source: OpenAlex author A5069540793 Funded by Wellcome Trust, Simons Foundation for Autism Research Initiative (SFARI) +1 more › UKRI, AI Centre for Doctoral Training in Biomedical Innovation · 2024-2032 “Director UKRI AI Centre for Doctoral Training in Biomedical Innovation (2024-2032)” Simons Foundation for Autism Research Initiative (SFARI), translational project · Since 2018 “Since 2018 I have been involved in a translational project funded by the Simons Foundation for Autism Research Initiative (SFARI)” Wellcome Trust · active “We are using our biomedical natural language processing and network methods in a £5.5m Wellcome Trust funded collaboration” Source: lab pages 14 platforms and techniques › Analyzes whole-genome sequencing, RNA microarrays, RNA-seq, single-cell RNA-seq, next-generation sequencing (NGS), high-throughput DNA sequencing Techniques network fusion, graph neural networks, biomedical natural language processing, topic modelling, BioBERT, knowledge graphs, Kappa Language rule-based modeling, ordinary differential equation modeling Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm A knowledge graph framework for multimodal genotype-phenotype integration in rare genetic diseases Artificial Intelligence and Machine Learning Genotype-phenotype correlationsRare variantsMachine learningCharacterization of disorders
Usher Instituteed.ac.uk/usher Dry lab~284 people Analyzes Generation Scotland genetic and e-HR data and EAVE II linked GP, vaccination and hospital data. Works with Public Health Scotland on population health. Funded by Medical Research Council, National Institute for Health Research +4 more › Health Data Research UK, Inflammation and Immunity Driver Programme · 2023-28 “Inflammation and Immunity core funding was awarded by Health Data Research UK (HDR UK).” Medical Research Council, EAVE II · active “EAVE II is funded by the Medical Research Council [MR/R008345/1]” National Institute for Health Research, EAVE II · active “EAVE II is funded by the Medical Research Council, National Institute for Health Research, Health Data Research UK and the HDR UK BREATHE Hub” +3 more on the lab page Source: lab pages 15 platforms and techniques › Analyzes Generation Scotland, EAVE II, DataLoch Secure Data Environment, Viral sequencing, OMOP Common Data Model, DNA and exome sequencing, MRI and CT scans Techniques Genotyping, Machine learning and deep learning, Natural language processing, Statistical modeling, Mendelian randomization, Data linkage, Phylogenetics, Polygenic risk scores Source: lab pages Currently hiring › “Join our growing team of academics and professional services staff” Source: lab positions page	Poster Thu Oct 22 4:15 pm Founder effects in the Scottish Isles bring multiple recessive pathogenic variants above the frequency threshold for screening Evolutionary and Population Genetics Population geneticsReproductive geneticsRare variantsMendelian disorder

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