ASHG 2026 · Tier 1 Academic

University of Colorado Anschutz at ASHG 2026

Aurora, Colorado

University of Colorado Anschutz at ASHG 2026 in Montréal: 20 presentations (17 posters, 3 featured symposia); 11 research groups.

20
presentations on the program
11
research groups identified
3
sessions invited to or moderated

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Colorado Anschutz
Aurora, Colorado
4 PIs · 4 Postdocs · 4 PhD Students · 3 Staff Scientists
Breuss Labbreusslab.org
Dry lab~6 people
Studies genomic and cellular mosaicism using somatic mutations, short tandem repeats and multi-omic profiles. Applies findings to brain development, congenital disease and transmission risk.
9 papers since 2024
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective
Genes, 2025
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain
Nature, 2024
Mapping recurrent mosaic copy number variation in human neurons
Nature Communications, 2024
Source: OpenAlex author A5019788385
Funded by Not stated, University of Colorado School of Medicine +1 more
Not stated, R01 · 2024
The NIH's standard multi-year research project grant.
“We are excited to announce that our R01 on "Genome-wide assessment of transcriptional state history" was awarded.”
University of Colorado School of Medicine, Translational Research Scholar Program (TRSP) · 2024
“Our laboratory and Martin are now part of the Translational Research Scholar Program (TRSP) through the University of Colorado School of Medicine.”
Boettcher, Boettcher Collaboration grant · through 2023
“Thanks to funding from an additional Boettcher Collaboration grant, he continued working with us through 2023.”
Source: lab pages
8 platforms and techniques
Analyzes
Multi-omic profiling, Single-nucleotide variant detection, Short tandem repeat analysis
Techniques
Machine-learning methods, Sequence-based modeling, Large-scale primer design and specificity analysis, Retroactive lineage tracing, Genomic mosaicism analysis
Source: lab pages
Currently hiring
“The Breuss lab is excited to receive applications from motivated and creative scientists with a passion to work at the interface of human genetics and developmental biology at all experience levels.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
A Cross-Species Framework for Benchmarking Mosaic Variant Detection in Human and Preclinical Model Genomes
Omics Technologies
MosaicismMutation detectionComputational toolsModel organisms
Poster
Thu Oct 22
4:15 pm
Genome-wide recording of transcriptional state history
Omics Technologies
TranscriptomeDevelopmentDifferentiationLong-read sequencing
Poster
Fri Oct 23
2:30 pm
Transmission and recurrence risk of pathogenic mutations assessed through personalized genomic mosaicism analysis.
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Mendelian disorderMosaicismReproductive geneticsRisk assessment
Cole Labjcolelab.com
Dry lab~9 people
Analyzes GWAS, untargeted metabolomics and DNA methylation data. Uses them to study dietary intake, precision nutrition and cardiometabolic disease.
29 papers since 2024
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science, 2025
Polygenic risk score for type 2 diabetes shows context-dependent effects across populations
Nature Communications, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
Nature Genetics, 2024
Source: OpenAlex author A5062087105
Funded by American Diabetes Association, NIDDK +1 more
American Diabetes Association · active
“funded by the American Diabetes Association”
NIDDK, K99/R00 Award · active
“an NIDDK K99/R00 Award”
NIGMS, R35 · active
“She recently received an NIGMS R35”
Source: lab pages
7 platforms and techniques
Analyzes
GWAS data, untargeted metabolomics, DNA methylation
Techniques
Mendelian randomization, polygenic scores, gene-environment interactions, heritability
Source: lab pages
Currently hiring
“We are hiring at all levels!”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Evaluation of multiple X-chromosome association methods in UK Biobank identifies 18 genetic loci influencing eating behavior
Complex Traits and Polygenic Disorders
Complex traitsGenome-wide association studyX-linked diseaseStatistical genetics
Poster
Thu Oct 22
4:15 pm
Using heritability to optimize phenotype preprocessing decisions with biomarkers in the UK Biobank
Statistical Genetics and Genetic Epidemiology
HeritabilityGenome-wide association studyStatistical geneticsEpidemiology
Colorado Center for Personalized Medicinemedschool.cuanschutz.edu/ccpm
Wet + dry lab~17 people
Integrates genotype, whole-exome sequencing and electronic health-record data through the CCPM Biobank and Health Data Compass. Uses pharmacogenomics and clinical decision support with UCHealth.
158 papers since 2024
Integration of 168,000 samples reveals global patterns of the human gut microbiome
Cell, 2025
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine
The American Journal of Human Genetics, 2024
A publishing infrastructure for Artificial Intelligence (AI)-assisted academic authoring
Journal of the American Medical Informatics Association, 2024
Source: OpenAlex author A5050692257
12 platforms and techniques
Works with
Colorado Biobank Portal, Whole-exome sequencing (WES), Genotyping, Pharmacogenetic testing (PGx), High-impact pathogenic-variant testing, Electronic health records (EHR), Health Data Compass
Techniques
Genome-wide association studies (GWAS), Polygenic risk scores (PRS), Rare-variant analysis, Clinical decision support, DNA analysis
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Landscape of Colorado Center for Personalized Medicine Whole Exome Research Freeze 4
Genetic, Genomic, and Epigenomic Resources and Databases
Clinical geneticsDatabasesExome/genome sequencingLarge-scale biobanks
Poster
Fri Oct 23
2:30 pm
Rapid integration of >40,000 genotyped samples to build a research freeze of >140,000 Biobank participants
Genetic, Genomic, and Epigenomic Resources and Databases
Electronic health recordsGenome-wide association studyLarge-scale biobanksPhenome-wide association
Greene Labgreenelab.com/team
Dry lab~5 people
Develops algorithms integrating single-cell, single-nucleus, bulk RNA-seq and spatial transcriptomics data. Applies machine learning to precision medicine and translational genomics.
158 papers since 2024
Integration of 168,000 samples reveals global patterns of the human gut microbiome
Cell, 2025
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine
The American Journal of Human Genetics, 2024
A publishing infrastructure for Artificial Intelligence (AI)-assisted academic authoring
Journal of the American Medical Informatics Association, 2024
Source: OpenAlex author A5050692257
10 platforms and techniques
Analyzes
single-cell RNA-sequencing, single-nucleus datasets, bulk RNA-seq, spatial transcriptomics, tumor-derived RNA sequencing
Techniques
machine learning, bulk RNA-seq deconvolution, genetic demultiplexing, single-cell transcriptomics, biomedical knowledge graphs
Source: lab pages
Currently hiring
“The Greene Lab welcomes applications for computational postdoctoral positions at the University of Colorado School of Medicine.”
Source: lab positions page
No funding stated
Symposium
Wed Oct 21
8:15 am
Introduction
Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem
Poster
Fri Oct 23
2:30 pm
Cis-gene regulation explains most chromosome 21 expression deviations from the ploidy expectation in Down syndrome
Molecular Effects of Genetic Variation
Collaborators: University of Colorado Boulder
AneuploidyExpression quantitative trait lociRegulation of transcriptionVariant interpretation
Claw Indigenous Genomics and Ethics Laboratoryclawlab.org
Wet + dry lab~12 people
Uses VAMP-Seq, GWAS/EWAS, whole-genome sequencing and qualitative methods. Studies pharmacogenomics, ethics and community health with Indigenous and Navajo communities.
12 papers since 2024
Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples
Annual Review of Genomics and Human Genetics, 2025
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences
Scientific Reports, 2024
Implementing community-engaged pharmacogenomics in Indigenous communities
Nature Communications, 2024
Source: OpenAlex author A5034412767
Funded by National Science Foundation
National Science Foundation, Alan T. Waterman Award · 2024
“she was awarded the 2024 Alan T. Waterman Award by the National Science Foundation”
Source: lab pages
11 platforms and techniques
Works with
VAMP-Seq, Multiplexed Assay for Variant Effects (MAVE), High-throughput sequencing, GWAS/EWAS, Whole-genome sequencing (WGS)
Techniques
Deep mutational scanning, Candidate gene strategies, Community-based participatory research, Mixed-methods qualitative research, Physiologically based pharmacokinetic modeling, Cellular assays
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Characterization of genomic influences of nicotine metabolism in American Indians from the strong heart study
Pharmacogenomics
Collaborators: University of Colorado Boulder, University of Toronto +3 more
Genome-wide association studyPopulation geneticsPrecision medicine
Session
Fri Oct 23
9:45 am
Claw Labclawlab.org/people
Wet + dry lab~9 people
Generates VAMP-Seq/MAVE data and analyzes EWAS/GWAS and whole-genome sequencing data. Applies pharmacogenomics and bioethics with Indigenous communities to improve nicotine cessation.
12 papers since 2024
Indigenous Data Sovereignty in Genomics and Human Genetics: Genomic Equity and Justice for Indigenous Peoples
Annual Review of Genomics and Human Genetics, 2025
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences
Scientific Reports, 2024
Implementing community-engaged pharmacogenomics in Indigenous communities
Nature Communications, 2024
Source: OpenAlex author A5034412767
Funded by National Science Foundation
National Science Foundation, Alan T. Waterman Award · 2024
“she was awarded the 2024 Alan T. Waterman Award by the National Science Foundation”
Source: lab pages
11 platforms and techniques
Works with
VAMP-Seq, Multiplexed Assay for Variant Effects (MAVE), Deep Mutational Scanning assay, Whole-genome sequencing (WGS)
Techniques
VAMP-Seq, Deep mutational scanning, GWAS/EWAS, Candidate gene strategies, Physiologically based pharmacokinetic models, Community-based participatory research, Mixed-methods qualitative research
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Structural Equation Modeling to Characterize Genetics and Epigenetics of Nicotine Metabolism in American Indians from the Strong Heart Study
Statistical Genetics and Genetic Epidemiology
Collaborators: University of Colorado Boulder, University of Toronto +1 more
EpigeneticsGenomicsPharmacogenomicsStatistical genetics
Dashnow Labdashnowlab.org
Dry lab~10 people
Develops computational methods for rare-disease diagnosis using PacBio HiFi, Nanopore and short-read data. Leads tandem-repeat analysis in the 1000 Genomes Project Long Read Sequencing Consortium.
34 papers since 2024
Human de novo mutation rates from a four-generation pedigree reference
Nature, 2025
Characterization and visualization of tandem repeats at genome scale
Nature Biotechnology, 2024
Sequencing and characterizing short tandem repeats in the human genome
Nature Reviews Genetics, 2024
Source: OpenAlex author A5084011294
9 platforms and techniques
Analyzes
PacBio HiFi, Nanopore long-read sequencing, Short-read sequencing
Techniques
Tandem repeat genotyping, Repeat expansion detection, Phased genome assembly, Tandem-repeat locus disease classification, Somatic mosaicism analysis, Human four-generation family genomics
Source: lab pages
Currently hiring
“Applications are welcome for postdocs, staff scientists and students.”
Source: lab positions page
No funding stated
Moderator
Thu Oct 22
11:00 am
Poster
Fri Oct 23
2:30 pm
From detection to interpretation: challenges in diagnosing tandem repeat disorders with long-read sequencing
Omics Technologies
Collaborators: University of Utah, Broad Institute +7 more
DiagnosticsLong-read sequencingBioinformaticsIdentification of disease genes
Dias Labdiaslab.org/team
Wet + dry lab~3 people
Studies human brain disorders using long-read and single-nucleus multi-omic sequencing in primary human cells and tissues. Focuses on Fragile X, FXTAS and FXAND.
12 papers since 2024
Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective
Genes, 2025
Mapping recurrent mosaic copy number variation in human neurons
Nature Communications, 2024
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5005173482
Funded by NINDS, Boettcher Foundation +3 more
NINDS, R01NS134544-01A1 · active
The NIH's standard multi-year research project grant.
“Past & Current Support NINDS R01NS134544-01A1”
Boettcher Foundation · active
“Boettcher Foundation”
BRF · active
“BRF”
+2 more on the lab page
Source: lab pages
6 platforms and techniques
Works with
long-read sequencing, single-nucleus multi-omic sequencing, single-cell RNA-seq
Techniques
mechanistic molecular biology, primary human cells and tissues, human cellular models
Source: lab pages
Currently hiring
“The Dias Lab welcomes applications from individuals who have an interest in studying the genetics of neurodevelopment.”
Source: lab positions page
Poster
Thu Oct 22
4:15 pm
Uncovering Cell-Type Specific Alterations in Female FMR1 Premutation Brain
Complex Traits and Polygenic Disorders
Brain/nervous systemNeurodegenerationNeurogeneticsPsychiatric genetics
Pividori Labpivlab.org
Dry lab~11 people
Develops machine-learning methods for precision medicine using GWAS/TWAS, RNA-seq and UK Biobank data. Extracts biological insight to improve human health.
20 papers since 2024
A publishing infrastructure for Artificial Intelligence (AI)-assisted academic authoring
Journal of the American Medical Informatics Association, 2024
Chatbots in science: What can ChatGPT do for you?
Nature, 2024
An efficient, not-only-linear correlation coefficient based on clustering
Cell Systems, 2024
Source: OpenAlex author A5019698272
7 platforms and techniques
Analyzes
GWAS/TWAS, RNA-seq
Techniques
machine learning, gene co-expression analysis, polygenic transcriptome risk scores, drug repurposing, biclustering
Source: lab pages
Currently hiring
“We are currently hiring postdoctoral researchers, research assistants and software engineers.”
Source: lab positions page
No funding stated
Poster
Fri Oct 23
2:30 pm
A genetically informed atlas of transcriptomic programs from massive human RNA-seq compendia
Statistical Genetics and Genetic Epidemiology
Collaborators: University of Pittsburgh
Machine learningComplex diseasesTranscriptomeGenome-wide association study
Stranger Labstrangerlab.github.io/Stranger-Genomics-Lab
Dry lab~3 people
Integrates multi-omics, gene-expression and epigenomic data with computational methods. Studies sex differences in human disease and precision medicine.
12 papers since 2024
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Nature Genetics, 2025
Deciphering the impact of genomic variation on function
Nature, 2024
Source: OpenAlex author A5010839205
Funded by NIH
NIH · active
“We’re looking for postdoctoral fellows, statistical geneticists, and data scientists to work on NIH-funded research.”
Source: lab pages
6 platforms and techniques
Techniques
statistical genetics, machine learning, multi-omics integration, transcriptomic analysis, eQTL analysis, cardiac muscle stem-cell functional validation
Source: lab pages
Currently hiring
“We’re looking for postdoctoral fellows, statistical geneticists, and data scientists.”
Source: lab positions page
Symposium
Wed Oct 21
8:15 am
Introduction
Genomics of Sex Differences and Reproductive State Across the Life Course: Context, Timing, and Biological Transitions
Bilousova & Haendel Labs
Research group.
Symposium
Fri Oct 23
9:05 am
From clinical phenotypes to mechanism: AI-based atratification of patients for genomic discovery
AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes
4 more presenters — research group not yet identified

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