ASHG 2026 · Tier 2–3 Academic
University of California, Irvine at ASHG 2026
Irvine, California
University of California, Irvine at ASHG 2026 in Montréal: 11 presentations (8 posters, 2 platform talks, 1 lightning talk); 6 research groups.
11
presentations on the program
6
research groups identified
1
Reviewers’ Choice abstracts
| Organization | ASHG 2026 Attendance |
|---|---|
University of California, Irvine Irvine, California | 3 Undergrads · 3 PhD Students · 2 PIs |
UCI-GREGoRgregorconsortium.org/center/university-california-irvine-gregor Investigates rare Mendelian disease using exome, genome and long-read sequencing data. Partners with Children’s National Hospital and Invitae to improve diagnosis and variant interpretation.
| Talk Wed Oct 21 1:35 pm Deploying long-read sequencing to bridge diagnostic and equity gaps in rare disease Long-read sequencingMulti-omicsMutation detectionRare variants Poster Thu Oct 22 4:15 pm A Generalizable Translational Genomics Data Platform built using the GREGoR Consortium BioinformaticsDatabasesGenomicsLarge-scale biobanks Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Deploying long-read sequencing to bridge diagnostic and equity gaps in rare diseaseAtaxiaLong-read sequencingMulti-omicsMutation detection |
Chen Labrchenlab.github.io Uses next-generation sequencing, single-cell omics, patient-derived iPSC, retinal organoids, mice and machine learning to study visual disease. Develops genetic diagnostics and retinal therapeutics.
| Poster Thu Oct 22 4:15 pm Distinct somatic mutation load and signature identified across different part of the human eye Mutation detectionSomatic variants Talk Sat Oct 24 10:00 am High-Throughput Splicing Assay to Functionally Characterize Genetic Variants with Splicing Effect Visual systemsAlternative splicing |
Kimonis Labsites.uci.edu/kimonislab/personnel Develops CRISPR mouse models and patient iPSC-derived myoblasts for hereditary myopathy research. Tests antisense oligonucleotides and gene therapy for rare neuromuscular and lysosomal disorders.
| Talk Wed Oct 21 11:15 am CNS-directed transferrin receptor-targeted enzyme replacement therapy for β-Mannosidosis Genotype-phenotype correlationsIntellectual and developmental disabilityLysosomal diseasesNeurodegeneration Poster Thu Oct 22 4:15 pm Antisense oligonucleotides inhibiting glycogen synthase (GYS1) decrease glycogen in the neonatal Pompe disease mouse model Clinical geneticsGene therapyLysosomal diseasesModel organisms |
Swarup Labswaruplab.bio.uci.edu Integrates spatial and single-nucleus transcriptomics with genomics, neuroimaging, pathology and biomarkers. Builds human-relevant Alzheimer’s mouse models through UCI MODEL-AD.
| Poster Thu Oct 22 4:15 pm Flow Orchestrated Regulatory Genomics Engine (FORGE) for Multiomic Single Nucleus Resolution Epigenome Analyses BioinformaticsMulti-omicsSystems biologySingle-cell Poster Fri Oct 23 2:30 pm Operon: Agentic AI for Multi-Omic Discovery Artificial intelligenceGenomicsMethodology |
Cooray Groupherschel.uci.edu/lab-members Analyzes SPHEREx, Euclid and Herschel/SPIRE survey data with machine learning, photometric modeling and spectral analysis. Studies cosmic infrared background, galaxy evolution and strong gravitational lensing.
| Poster Fri Oct 23 2:30 pm Autonomous AI Interpretation of Genomic Data and Extraction of Clinical Data from FDA Drug Labels Artificial intelligenceGenetic testingGene therapyGenomics |
Poster Fri Oct 23 2:30 pm Change in patient activation after receiving polygenic risk score results: Findings from the GenoVA randomized trial Genetic testingPolygenic risk scoreClinical geneticsGenetic counseling |
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