ASHG 2026 · Tier 1 Academic
University of Utah at ASHG 2026
Salt Lake City, Utah
University of Utah at ASHG 2026 in Montréal: 32 presentations (27 posters, 2 lightning talks, 2 platform talks); 15 research groups.
32
presentations on the program
15
research groups identified
6
sessions invited to or moderated
2
Reviewers’ Choice abstracts
| Organization | ASHG 2026 Attendance |
|---|---|
University of Utah Salt Lake City, Utah | 10 Postdocs · 10 PhD Students · 6 PIs · 3 Staff Scientists |
Quinlan Labquinlanlab.org Develops algorithms for WGS, exome, targeted and single-cell RNA sequencing data. Studies germline mutation, structural variation, somatic mosaicism and rare disease genetics.
| Moderator Wed Oct 21 1:30 pm Talk Wed Oct 21 2:15 pm Saliva-derived DNA sequencing reveals higher mutation rates compared to blood tissues BioinformaticsClinical geneticsMosaicismSomatic variants Poster Wed Oct 21 2:30 pm Quantitative genetic inference on compositional traits using multivariate mixed models Genetic variationGenotype-phenotype correlationsHeritabilityLarge-scale biobanks Poster Wed Oct 21 2:30 pm Dissecting the genetic etiology of isolated anorectal malformations with long-read trio genome sequencing and deep exome sequencing of affected tissue DevelopmentExome/genome sequencingLong-read sequencingSomatic variants Poster Wed Oct 21 2:30 pm Multiallelic mutations reflect inherited DNA lesions in C. elegans Evolutionary geneticsGenomicsMosaicismMutation detection Talk Thu Oct 22 8:15 am What shapes early post-zygotic mutation burden? Family and parental age effects in nearly 1000 individuals from the large, four-generation CEPH/Utah pedigrees DevelopmentMosaicismSomatic variantsInheritance patterns Moderator Fri Oct 23 11:00 am Poster Fri Oct 23 2:30 pm Gene expression outlier detection for rare disease diagnostics is limited by reference population heterogeneity and size. BioinformaticsComputational toolsIdentification of disease genesMendelian disorder Poster Fri Oct 23 2:30 pm Saliva-derived DNA sequencing reveals higher mutation rates compared to blood tissues BioinformaticsClinical geneticsMosaicismSomatic variants Plenary Fri Oct 23 5:08 pm Heritability of germline mutagenesis in 40 large three- and four-generation pedigrees Evolutionary geneticsHeritabilityStatistical genetics |
Chow Labgenetics.utah.edu/research/clement-y-chow Studies genetic variation using Drosophila models, genome-wide CRISPR screens and drug-repurposing screens. Aims to inform precision medicine and individualized therapies for rare disease.
| Talk Wed Oct 21 1:47 pm A genetic screen for a model of PIGA-CDG identifies GSK3B as a candidate modifier Intellectual and developmental disabilityMendelian disorderX-linked diseaseNeurogenetics Poster Wed Oct 21 2:30 pm Harnessing natural variation to identify modifier genes and therapeutic targets for MAN1B1-CDG Genome-wide association studyMendelian disorderNeurodevelopmentalGenetic variation Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice A genetic screen for a model of PIGA-CDG identifies GSK3B as a candidate modifierEpilepsyIntellectual and developmental disabilityMendelian disorderNeurogenetics Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Identifying the mechanism of N-acetyl-L-leucine rescue in SYNGAP1-Related DisorderMendelian disorderNeurodevelopmentalEpilepsyGenome-wide association study Poster Fri Oct 23 2:30 pm Temporal control of NGLY1 expression produces a dose-dependent phenotypic spectrum and informs gene therapy and small molecule treatment windows. Clinical geneticsCharacterization of disordersCandidate geneNeurodevelopmental Poster Fri Oct 23 2:30 pm Natural Genetic Variation Shapes Phenotypic Variability in PMM2-CDG Genetic variationGenotype-phenotype correlationsMendelian disorderMetabolic disorder Talk Sat Oct 24 8:15 am Genetic and Therapeutic Characterization of FIG4- Linked Neurodegeneration Lysosomal diseasesBrain/nervous systemMendelian disorderNeurodegeneration |
Marth Labmarthlab.org Develops computational tools for rare-disease genomics, precision oncology and somatic mosaicism using phenotype, omic and DNA-sequencing data. Supports patient matching, therapy selection and mutation discovery.
| Poster Thu Oct 22 4:15 pm Phenotype-first patient matching identifies diagnostic candidates beyond curated gene associations Candidate geneClinical geneticsComputational toolsDiagnostics Poster Thu Oct 22 4:15 pm Somatic mutation landscapes in healthy tissues of individuals with inherited BRCA-mediated DNA repair deficiency Somatic variantsCancer syndromesMosaicismOncogenesis Moderator Fri Oct 23 1:30 pm |
Superhuman Labsuperhumanlab.org Uses computational genomics paired with health data to translate discoveries in unique populations into medically relevant insights. Partners with Bajau Sea Nomads and Haenyeo divers.
| Poster Thu Oct 22 4:15 pm Applying a signal-based mapping method to improve structural variation detection BioinformaticsComputational toolsGenetic variationGenomics Poster Fri Oct 23 2:30 pm |
Yandell Labyandell-lab.org Develops computational tools for high-throughput sequencing, personal-genome and clinical EHR data. Uses them for genome annotation, disease-gene discovery and clinical diagnosis.
| Poster Thu Oct 22 4:15 pm Systematic Reanalysis of Patient Whole Genome Sequences Improves Diagnostic Yield in Pediatric Rare Disease Exome/genome sequencingDiagnosticsArtificial intelligenceElectronic health records Poster Fri Oct 23 2:30 pm Real-time prioritization of pediatric in-patients for whole genome sequencing in a learning health system using longitudinal EHR data Exome/genome sequencingMachine learningElectronic health recordsPhenotype |
Leffler Lablefflerlab.org Applies computational methods to pathogen and primate population-genomic datasets, including Illumina shotgun sequencing. Studies malaria, host-pathogen co-evolution and genetic variation in humans and other primates.
| Poster Fri Oct 23 2:30 pm Hiding in plain sight: malaria parasite genotype masks the protective effect of sickle hemoglobin against infection Population geneticsInfectious diseaseGenome-wide association studyEvolutionary genetics Moderator Sat Oct 24 8:15 am |
Pezzolesi Labpezzolesilab.org Integrates University of Utah Hospital electronic medical records, Utah Population Database genealogy and whole-genome sequencing. Studies diabetes, diabetic kidney disease and chronic kidney disease.
| Moderator Wed Oct 21 11:00 am Poster Thu Oct 22 4:15 pm Pacific Islander GWAS meta-analysis identifies ancestry-enriched type 2 diabetes risk loci Genome-wide association studyDiabetesPopulation geneticsGenetic epidemiology |
ARUP Cytogenetics and Genomics Labaruplab.com/cytogenetics Performs chromosome analysis, FISH, and genomic microarray testing on constitutional, prenatal, and oncology samples. Supports diagnosis, prognosis, therapy, and monitoring of cancer.
| Poster Fri Oct 23 2:30 pm Resolving complex clinically relevant structural variants using TruPath Genome Copy number/structural variationDiagnosticsExome/genome sequencingRare variants |
ClinGen Dosage Sensitivity Curationclinicalgenome.org/working-groups/dosage-sensitivity-curation Evaluates dosage-sensitivity evidence for genes and genomic regions in ClinGen Dosage Curation Interface. Provides a public Dosage Sensitivity Map for clinical CNV interpretation and microarray design.
| Moderator Fri Oct 23 1:30 pm Poster Fri Oct 23 2:30 pm Evaluation of Phenotype and Inheritance Information for Dosage Sensitivity Curation of Recurrent CNVs Copy number/structural variationVariant interpretationSusceptibility locusInheritance patterns |
Coon Labmedicine.utah.edu/psychiatry/research/labs/coon Analyzes whole-genome sequencing, electronic health records, polygenic scores and USMRS data. Studies genetic and environmental risks leading to suicide mortality.
| Poster Wed Oct 21 2:30 pm Intergenic deletions from whole genome sequencing of 1054 suicide deaths Rare variantsRisk assessmentDepressionAnxiety |
University of Utah (Genotyping Lab)pulst.genetics.utah.edu Analyzes human family genetics and models disease mutations in cells and mice. Develops therapeutics for spinocerebellar ataxias, ALS and Parkinson’s disease.
| Poster Thu Oct 22 4:15 pm Identity-by-descent analysis refines the age of the ZFHX3 GGC repeat expansion in spinocerebellar ataxia 4 AtaxiaTriplet and other repeatsNeurodegenerationNeurogenetics |
Vollger Labvollgerlab.com Develops computational tools using long-read sequencing, Fiber-seq and haplotype-resolved genome assembly. Studies gene regulation in segmental duplications with major genomics consortia.
| Poster Wed Oct 21 2:30 pm Genetic drivers of regulatory variation across the human pangenome ChromatinEpigeneticsGenetic variationLong-read sequencing |
Yang Labsites.google.com/view/xiaoxu-yang-lab/home Studies genomic mosaicism with amplicon-based deep sequencing, digital PCR, PASM and MPAS. Uses mosaic variants to trace human development and understand human disease.
| Poster Fri Oct 23 2:30 pm FERTBase: A comprehensive, expert-curated knowledgebase for reproductive genetics DatabasesGenetic testingGenetic variation |
Primary Children's Center for Personalized Medicine Works in clinical genetics. | Poster Wed Oct 21 2:30 pm Regional Implementation and Delivery of a Pediatric Clinical Genome Sequencing Program Across the Mountain West: Primary Children’s Gene Kids GenomicsDatabasesArtificial intelligenceExome/genome sequencing |
Tavtigian Lab Works in cancer genetics and clinical genetics. | Poster Fri Oct 23 2:30 pm Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2 CancerClinical testingVariant interpretation |
| 1 more presenter — research group not yet identified | |
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