ASHG 2026 · Tier 1 Academic

University of Helsinki at ASHG 2026

Helsinki, Finland

University of Helsinki at ASHG 2026 in Montréal: 9 presentations (8 posters, 1 platform talk); 8 research groups.

9
presentations on the program
8
research groups identified
1
sessions invited to or moderated
3
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Helsinki
Helsinki, Finland
6 PhD Students · 1 Postdoc · 1 Staff Scientist · 1 PI
Computational & Statistical Genomicscompstatgenlab.github.io
Dry lab~8 people
Develops statistical and computational methods for low-coverage whole-genome sequencing and SNP-array data. Applies them to biobanks to study disease genetics.
21 papers since 2024
Parent-of-origin effects on complex traits in up to 236,781 individuals
Nature, 2025
A Genomics England haplotype reference panel and imputation of UK Biobank
Nature Genetics, 2024
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
bioRxiv (Cold Spring Harbor Laboratory), 2024
Source: OpenAlex author A5030162729
Funded by ERC, Marie Skłodowska-Curie Actions +2 more
ERC, ERC Starting Grant · active
“Simone has been awarded a prestigious ERC Starting Grant.”
Marie Skłodowska-Curie Actions, Marie Curie Fellowship · active
“Dr. Maarja Jõeloo has been awarded a prestigious Marie Curie Fellowship!”
EMBO, EMBO Scientific Exchange Grant · active
“Francesca receives an EMBO Scientific Exchange Grant”
+1 more on the lab page
Source: lab pages
9 platforms and techniques
Analyzes
Low-coverage whole-genome sequencing (lcWGS), Whole-exome sequencing (WES), SNP arrays
Techniques
Structural-variant detection and interpretation, Haplotype phasing, Identity-by-descent analysis, Low-coverage imputation, Hidden Markov models and PBWT, Polygenic risk scores and rare-variant burden estimation
Source: lab pages
Currently hiring
“We are actively recruiting postdoctoral researchers and PhD students”
Source: lab positions page
Talk
Wed Oct 21
11:15 am
Accurate maternal and paternal haplotype inference reveals new parent-of-origin effects in the Finnish population
Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects
Collaborators: Institute for Molecular Medicine Finland
Complex traitsGenome-wide association studyHaplotypeInheritance patterns
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Scalable, Read-Informed Phasing of 490,640 UK Biobank Whole Genomes
Statistical Genetics and Genetic Epidemiology
Collaborators: Institute for Molecular Medicine Finland, University of Lausanne
BioinformaticsComputational toolsGenetic variationHaplotype
Pietiläinen Grouphelsinki.fi/en/hilife-helsinki-institute-life-science/units/neuroscience-center/research-groups/genomics-human-brain-disorders
Wet + dry lab~5 people
Uses human iPSC-derived neuronal models, functional genomics and Finnish genetic and clinical datasets. Studies schizophrenia and neurodevelopmental disorders, with close links to the Stanley Center.
19 papers since 2024
Single-nucleus sequencing reveals enriched expression of genetic risk factors in extratelencephalic neurons sensitive to degeneration in ALS
Nature Aging, 2024
X-chromosome inactivation in human iPSCs provides insight into X-regulated gene expression in autosomes
Genome biology, 2024
Antipsychotic medications and sleep problems in patients with schizophrenia
Schizophrenia Research, 2024
Source: OpenAlex author A5069057100
Funded by Sigrid Juséliuksen Säätiö, Jane ja Aatos Erkon säätiö
Sigrid Juséliuksen Säätiö, Juselius 2025-2028 Pietiläinen Olli · 2025-2027
“Sigrid Juséliuksen Säätiö @003701165704@ 01/05/2025 → 30/04/2027”
Jane ja Aatos Erkon säätiö · 2024-2027
“Jane ja Aatos Erkon säätiö 01/01/2024 → 31/12/2027”
Source: lab pages
16 platforms and techniques
Works with
human iPSC-derived neuronal models, human iPS cell lines and differentiated neuronal cultures, microfluidic cell cultures, MEA recording, high-content imaging, FinnGen clinical register data, transcriptomic data from human iPSC-derived neuronal models, plasma proteomic data from patient samples
Techniques
functional genomics, gene editing, molecular cell biology, microfluidic cell cultures, co-cultures, 2D and 3D models, rodent neuronal and glial cell cultures, MEA recording
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
A composite polygenic risk score of four prominent psychiatric disorders outperforms individual scores for shared comorbidity prediction in a large undiagnosed cohort
Complex Traits and Polygenic Disorders
Collaborators: Broad Institute
Polygenic risk scoreClinical historyPsychosocial issuesPsychiatric genetics
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
NRXN1 variants induce transcriptomic and electrophysiological changes in iPSC-derived neurons
Complex Traits and Polygenic Disorders
Collaborators: Karolinska Institutet, Aalto University +3 more
NeurogeneticsRNA-seqSpatial transcriptomics
Data Science - Genetic Epidemiology Lab (DSGE Lab)dsgelab.org/team
Dry lab~17 people
Develops statistical and deep-learning models for EHR/registry, genetic, proteomic and single-cell transcriptomic data. Uses FinnGen and GenCOST for disease prediction, prevention and healthcare-cost genetics.
64 papers since 2024
Genetic drivers and cellular selection of female mosaic X chromosome loss
Nature, 2024
Family-GWAS reveals effects of environment and mating on genetic associations
medRxiv, 2024
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5073500794
Funded by ERC, NIH
ERC, Synergy Grant · active
“Image: ERC-Synergy-Grant.png”
NIH · active
“Image: NIH-logo.jpg”
Source: lab pages
13 platforms and techniques
Analyzes
Electronic health records/national health registries, GWAS, QTL data, Whole-exome sequencing, Single-cell transcriptomics, Proteomics
Techniques
Statistical methods, Deep learning, Polygenic scores, Machine-learning models, Transformer-based models, Self-supervised foundation models, Graph representation learning
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Polygenic indices for educational attainment predict income via indirect paternal effects
Statistical Genetics and Genetic Epidemiology
Collaborators: VATT Institute for Economic Research, Tampere University +3 more
Gene environment interactionGenetic epidemiologyLarge-scale biobanksPolygenic risk score
Kilpinen Grouphelsinki.fi/en/researchgroups/cellular-genetics-of-disease
Wet + dry lab~13 people
Uses human induced pluripotent stem cell (iPSC)-derived neuronal models and high-throughput profiling of single cells. Studies genetic variation in disease-relevant cell types.
4 papers since 2024
INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability
bioRxiv (Cold Spring Harbor Laboratory), 2026
Joint profiling of cell morphology and gene expression during in vitro neurodevelopment
eLife, 2025
Author Correction: Genomic basis for RNA alterations in cancer
Carolina Digital Repository (University of North Carolina at Chapel Hill), 2025
Source: OpenAlex author A5082096083
Funded by MRC, Nordic EMBL +2 more
Nordic EMBL, Nordic EMBL Postdoctoral (NORPOD) Fellowship · active
“I am a Nordic EMBL Postdoctoral (NORPOD) Fellow”
HiPOD, HiPOD Fellow · active
“Postdoctoral Researcher (HiPOD Fellow)”
la Caixa, la Caixa Postgraduate Fellowship Programme · 2023-2025
“supported by the “la Caixa” Postgraduate Fellowship Programme”
+1 more on the lab page
Source: lab pages
10 platforms and techniques
Works with
single-cell transcriptomics, scRNA-seq, ATAC-seq, spatial transcriptomics, high-content imaging, bulk RNA-seq
Techniques
CRISPR-Cas9, human iPSC-derived neuronal models, single-cell multi-omics, pooled iPSC-based approaches
Source: lab pages
Currently hiring
“We are always looking for smart, enthusiastic people that wish to develop their own projects and drive exciting science.”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Single-cell atlas of stem cell-derived human neurons
Complex Traits and Polygenic Disorders
Collaborators: Open Targets, Wellcome Sanger Institute
Single-cellTranscriptomeStem cellNeurogenetics
Lymphoma Biology and Survival Grouphelsinki.fi/en/researchgroups/lymphoma-biology-and-survival
Wet lab~13 people
Studies lymphoma using liquid biopsies, circulating tumour DNA, multiplex imaging and molecular profiling. Develops biomarkers and clinical trials for precision lymphoma treatment.
181 papers since 2024
Epcoritamab monotherapy in patients with relapsed or refractory follicular lymphoma (EPCORE NHL-1): a phase 2 cohort of a single-arm, multicentre study
The Lancet Haematology, 2024
Ibrutinib combined with immunochemotherapy with or without autologous stem-cell transplantation versus immunochemotherapy and autologous stem-cell transplantation in previously untreated patients with mantle cell lymphoma (TRIANGLE): a three-arm, randomised, open-label, phase 3 superiority trial of the European Mantle Cell Lymphoma Network
The Lancet, 2024
Gut microbiome-derived bacterial extracellular vesicles in patients with solid tumours
Journal of Advanced Research, 2024
Source: OpenAlex author A5051888634
Funded by Research Council of Finland, Cancer Society of Finland +2 more
Research Council of Finland
“The study received funding from the Research Council of Finland”
Cancer Society of Finland
“The study received funding from the Cancer Society of Finland”
iCAN Digital Precision Cancer Medicine Flagship
“the iCAN Digital Precision Cancer Medicine Flagship”
+1 more on the lab page
Source: lab pages
9 platforms and techniques
Works with
multiplex imaging, 1,400-protein profiling, gene expression profiling
Techniques
liquid biopsy, circulating tumour DNA, spatial analysis, molecular profiling, biomarker-driven lymphoma trials, genome-wide and functional approaches
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Temporal mutation and clonal dynamics in the circulating tumor DNA of relapsed or refractory aggressive B-cell lymphomas
Cancer
Collaborators: Helsinki University Hospital, Aarhus University Hospital +5 more
Cell-free DNACancerRisk assessmentSomatic variants
Ollikainen Grouphelsinki.fi/en/researchgroups/epigenetics-of-complex-diseases-traits/people
Wet + dry lab~7 people
Studies DNA methylation, histone modifications and microRNA in Finnish Twin Cohort twins. Uses these data for obesity, aging, substance use and risk prediction.
44 papers since 2024
Metabolic syndrome and epigenetic aging: a twin study
International Journal of Obesity, 2024
Suboptimal dietary patterns are associated with accelerated biological aging in young adulthood: A study with twins
Clinical Nutrition, 2024
Exploring machine learning strategies for predicting cardiovascular disease risk factors from multi-omic data
BMC Medical Informatics and Decision Making, 2024
Source: OpenAlex author A5043098809
Funded by National Institutes of Health (NIH), Research Council of Finland +1 more
European training program not stated, EpiTrain · 2013-
“EpiTrain; Status Active; Effective start/end date 01/03/2013 → …”
National Institutes of Health (NIH), NIH/Rutgers University · 2022-2025
“National Institutes of Health (NIH) OFM: €739,333.00; Effective start/end date 19/01/2022 → 31/05/2025”
Research Council of Finland, Centre of Excellence in Complex Disease Genetics · 2023-2025
“Project: Research Council of Finland: Centre of Exellence; Effective start/end date 01/01/2023 → 31/12/2025”
Source: lab pages
10 platforms and techniques
Analyzes
DNA methylation, Histone modifications, MicroRNA, Metabolomics, Proteomics
Techniques
Discordant MZ twin-pair study design, Twin modelling, Quantitative genetic models, EpiSmokEr smoking-status estimation, Epidemiological analyses
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Chronological and Biological Aging as Predictors of Mitochondrial DNA Abundance: Evidence from the Finnish Twin Cohort
Statistical Genetics and Genetic Epidemiology
Collaborators: University of Jyväskylä
BioinformaticsEpigeneticsMethylationMitochondria
Palotie Grouphelsinki.fi/en/researchgroups/genomics-of-neurological-and-neuropsychiatric-disorders/people
Dry lab~27 people
Uses genome information, digital health care data, GWAS, sequencing and DNA microarray genotyping. Studies migraine, schizophrenia, epilepsy and cardiovascular traits in Finnish cohorts and FinnGen.
118 papers since 2024
Proteomic aging clock predicts mortality and risk of common age-related diseases in diverse populations
Nature Medicine, 2024
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes
Nature Genetics, 2024
Source: OpenAlex author A5085708490
Funded by Sigrid Juséliuksen Säätiö, Business Finland
Sigrid Juséliuksen Säätiö, SUPER · 01/05/2026 → 30/04/2027
“Tila | Käynnissä Todellinen alku/loppupvm | 01/05/2026 → 30/04/2027 Sigrid Juséliuksen Säätiö”
Business Finland, FinnGen · active
“The project is contributed by Business Finland (The Finnish innovation fund)”
Source: lab pages
8 platforms and techniques
Analyzes
GWAS genotyping, Exome sequencing, Whole-genome sequencing, DNA microarray genotyping
Techniques
Genome-wide association studies, Family-structure analysis, Polygenic risk analysis, Longitudinal health-register analysis
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Sex differences in the genetic architecture of common diseases are rare and often driven by phenotypic artefacts
Molecular Effects of Genetic Variation
Collaborators: Institute for Molecular Medicine Finland, Broad Institute
Genome-wide association studyLarge-scale biobanksStatistical geneticsComplex diseases
HUS Physiology, Genetics and Preanalyticsresearchportal.helsinki.fi/en/organisations/hus-physiology-genetics-and-preanalytics
Wet lab
Runs genome studies, PET-CT, EEG, ENMG and bone mineral densitometry. Supports diagnosis, treatment follow-up and screening at HUS.
12 platforms and techniques
Runs
Genome studies, PET-CT, EEG, ENMG, Bone mineral densitometry, Radionuclide functional imaging
Techniques
Genetic disease diagnostics, Family inheritance studies, Genetic counselling, Brain mapping, Intraoperative neuromonitoring, Transcranial magnetic stimulation
Source: lab pages
No funding stated · No openings posted

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