ASHG 2026 · Hospital & health system

Mayo Clinic at ASHG 2026

Rochester, Minnesota

Mayo Clinic at ASHG 2026 in Montréal: 15 presentations (13 posters, 1 lightning talk, 1 plenary); 11 research groups.

15
presentations on the program
11
research groups identified
2
sessions invited to or moderated
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Mayo Clinic
Rochester, Minnesota
9 PIs · 3 Faculty · 2 Postdocs · 1 Clinician
Division of Computational Biologymayo.edu/research/departments-divisions/computational-biology/overview
Dry lab~27 people
Analyzes ATAC-seq, RNA-seq, proteomic, metabolomic and whole-slide image data with statistical genetics and machine learning. Supports Mayo Clinic biomedical discovery, translational research and patient care.
16 platforms and techniques
Analyzes
ATAC-seq, RNA-seq, Single-cell genome sequencing, Single-cell methylome sequencing, Single-cell transcriptome sequencing, Long-read support, Spatial omics, Whole-slide imaging
Techniques
Polygenic risk prediction, Gene-environment interaction analysis, Multi-omics integration, Predictive modeling, Nuclear detection and segmentation, Anomaly detection, Metagenomic sequencing, DICOM conversion
Source: lab pages
No funding stated · No openings posted
Talk
Wed Oct 21
1:47 pm
Dissecting obesity heterogeneity using cross-trait PRS and data-driven clustering for precision risk prediction
Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders
Artificial intelligenceComplex diseasesPolygenic risk scoreRisk assessment
Poster
Wed Oct 21
2:30 pm
Subtype-specific comorbidity risks and genetic etiologies in obesity
Complex Traits and Polygenic Disorders
Collaborators: Vanderbilt University
Complex diseasesElectronic health recordsGenetic variationObesity
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Dissecting Obesity Heterogeneity Using Cross-Trait PRS and Data-Driven Clustering for Precision Risk Prediction
Complex Traits and Polygenic Disorders
Artificial intelligenceComplex diseasesMachine learningPolygenic risk score
Poster
Fri Oct 23
2:30 pm
Joint effects of polygenic risk scores and family history information on absolute risk prediction with a method for incomplete family history
Statistical Genetics and Genetic Epidemiology
Polygenic risk scoreFamily historyRisk assessmentLarge-scale biobanks
Abyzov Labmayo.edu/research/labs/somatic-mutations-development-aging/overview
Dry lab~9 people
Analyzes whole-genome sequencing, single-cell sequencing, ChIP-seq, ATAC-seq, Hi-C and RNA-seq data for somatic variants and mosaicism. Studies human development, neurodevelopmental disorders and cancer.
29 papers since 2024
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Science, 2024
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex
Science, 2024
Source: OpenAlex author A5078568342
11 platforms and techniques
Analyzes
whole-genome sequencing, single-cell sequencing, ChIP-seq, ATAC-seq, Hi-C, RNA-seq
Techniques
CNVnator, CNVpytor, clonal expansion, whole-genome amplification, iPSC lines from skin fibroblasts
Source: lab pages
Currently hiring
“You are invited to apply for a postdoctoral position in Dr. Abyzov's lab.”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
Accurate detection of sub-1% frequency somatic mutations by whole genome sequencing
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: University of Utah, Yale University +3 more
Somatic variantsMosaicismSingle-cellExome/genome sequencing
Plenary
Thu Oct 22
2:49 pm
Charting mutation heterogeneity across human tissues: Early results from SMaHT
Awards Recognition & Plenary Abstract Session II
GenomicsLaboratory genetics and genomicsMosaicismMutation detection
Translational Omics Programmayo.edu/research/centers-programs/center-individualized-medicine/research/pillars-programs/translational-omics
Wet + dry lab~10 people
Interprets RNA sequencing, genome sequencing and methylation sequencing alongside functional studies. Focuses on rare and undiagnosed genetic diseases, populational genomics and preventive genomic screening.
88 papers since 2024
The expanding clinical and genetic spectrum of DYNC1H1 -related disorders
Brain, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
The American Journal of Human Genetics, 2024
Mayo Clinic Tapestry Study
Mayo Clinic Proceedings, 2024
Source: OpenAlex author A5044058635
8 platforms and techniques
Runs
RNA sequencing, Genome sequencing, Methylation sequencing
Techniques
In silico protein modeling, Machine learning, Structured phenotyping, Genome engineering, Functional laboratory studies
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
Functional Insights into a Novel SGCE Variant in Adult-Onset Dystonia
Molecular Effects of Genetic Variation
Collaborators: University of Florida
Variant interpretationMendelian disorderNeurogeneticsMolecular pathophysiology
Division of Hematopathologymayoclinic.org/departments-centers/laboratory-medicine-pathology/overview/specialty-groups/hematopathology/overview
Wet lab~31 people
Runs multicolor flow cytometry, RNA/DNA molecular testing, microscopy, cytochemical stains and coagulation assays. Diagnoses hematologic diseases for Mayo physicians and Mayo Clinic Laboratories clients.
10 platforms and techniques
Runs
Multicolor flow cytometry, RNA/DNA molecular testing, Complete blood counts, Cytochemical stains, Hemoglobin electrophoresis, Coagulation testing
Techniques
Traditional microscopy, Immunophenotyping, Cytochemical staining, AI-powered diagnostic workflows
Source: lab pages
Currently hiring
“The Division of Hematopathology in the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota, is actively recruiting a staff hematopathologist.”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Validation of an artificial intelligence (AI) model empowered workflow for enumeration FISH probes for myelodysplastic neoplasms (MDS)
Artificial Intelligence and Machine Learning
Artificial intelligenceCancer cytogeneticsFISHLaboratory genetics and genomics
PRIMED Consortium Data Sharing Working Groupprimedconsortium.org/working-group/data-sharing
~29 people
Develops data-sharing policies for genotype, phenotype and summary-statistics data on AnVIL, dbGaP and PGS Catalog. Supports PRS development and validation across PRIMED study sites.
Funded by National Human Genome Research Institute (NHGRI), National Cancer Institute (NCI)
National Human Genome Research Institute (NHGRI) · active
“The PRIMED Consortium is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI).”
National Cancer Institute (NCI) · active
“The PRIMED Consortium is funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI).”
Source: lab pages
1 platform and technique
Techniques
polygenic risk score development and validation
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Impact of genetic risk factors on coronary heart disease risk across the age spectrum in three major race/ethnicity groups in the United States
Complex Traits and Polygenic Disorders
Collaborators: University of Alabama at Birmingham, Vanderbilt University Medical Center +7 more
Polygenic risk scoreFamily historyCardiovascular systemRisk assessment
Statistical Genetics and Genetic Epidemiology Laboratorymayo.edu/research/labs/statistical-genetics-genetic-epidemiology/overview
Dry lab~8 people
Develops statistical methods and software for DNA and RNA sequence variation, proteomics, metabolomics and genetic data. Applies them to disease prediction and genetic epidemiology.
30 papers since 2024
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Nature Medicine, 2024
Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease Based on an Ancestrally Diverse Genome-Wide Association Study and Population-Specific Optimization
Circulation Genomic and Precision Medicine, 2024
The PRIMED Consortium: Reducing disparities in polygenic risk assessment
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5011038911
Funded by National Institutes of Health
National Institutes of Health, Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium · active
“a grant from the National Institutes of Health as part of the Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium”
Source: lab pages
6 platforms and techniques
Techniques
Polygenic risk scores, Fine-mapping, Causal mediation analysis, Genotype imputation, Gene-set association analysis, Gene-level kernel and burden association tests
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Federated Elastic Net Modeling from Summary Statistics Enables Privacy-Preserving Integration Across Multi-Biobank Genetic Studies
Statistical Genetics and Genetic Epidemiology
Collaborators: University of the Witwatersrand, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán +5 more
Statistical geneticsComplex diseasesComplex traitsPolygenic risk score
Experimental Pathology and Laboratory Medicinemayo.edu/research/departments-divisions/department-laboratory-medicine-pathology/division-experimental-pathology-laboratory-medicine/faculty
Wet + dry lab~18 people
Provides ChIP-seq, ATAC-seq, scATAC-seq and scMultiome services alongside molecular, cellular, genetic and epidemiological research. Targets cancer diagnosis, treatment and prevention.
181 papers since 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
The American Journal of Human Genetics, 2024
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations
JAMA Oncology, 2024
BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing
British Journal of Cancer, 2024
Source: OpenAlex author A5016908886
13 platforms and techniques
Runs
ChIP-seq, CUT&RUN, DIP-seq, ATAC-seq, scATAC-seq (10X), scMultiome ATAC + gene expression (10X), Single-cell gene expression flex (10X Genomics)
Techniques
Epigenomic profiling, Genome editing-based screens, Circulating tumor cell isolation, 3D organoid cultures, Patient-derived xenograft models, Comprehensive immune phenotyping
Source: lab pages
No funding stated · No openings posted
Clinical Genomics Sequencing Laboratory
Works in computational genetics.
Poster
Thu Oct 22
4:15 pm
Probing Large Language Model Behavior Using Patient-style Queries on Hematologic Genetic Variants
Artificial Intelligence and Machine Learning
Artificial intelligencePublic healthGenetic counselingPrecision medicine
Hereditary oncology subdiscipline
Works in cancer genetics and clinical genetics.
Poster
Fri Oct 23
2:30 pm
Characterization of PMS2CL deletions and PMS2/PMS2CL hybrid alleles that confound germline PMS2 testing for Lynch syndrome
Laboratory Genetics and Genomics
Cancer syndromesCopy number/structural variationDiagnosticsRare variants
Clinical Genomics Laboratory
Research group.
Lomberk Research Laboratory
Research group.
3 more presenters — research group not yet identified

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