ASHG 2026 · Tier 1 Academic

University of California San Diego at ASHG 2026

San Diego, California

University of California San Diego at ASHG 2026 in Montréal: 20 presentations (16 posters, 2 platform talks, 1 featured symposium); 10 research groups.

20
presentations on the program
10
research groups identified
4
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of California San Diego
San Diego, California
9 PhD Students · 3 PIs · 3 Postdocs · 1 Undergrad
Amariuta Labamariutalab.org/people.html
Dry lab~9 people
Develops statistical-genetics methods on GWAS, single-cell RNA-sequencing and biobank data. Uses them to fine-map disease genes and identify causal cell types across global populations.
10 papers since 2024
Fine-mapping causal tissues and genes at disease-associated loci
Nature Genetics, 2025
High-dimensional phenotyping to define the genetic basis of cellular morphology
Nature Communications, 2024
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
Nature Communications, 2024
Source: OpenAlex author A5028223846
8 platforms and techniques
Analyzes
GWAS, single-cell RNA-sequencing
Techniques
fine-mapping, machine learning, eQTL mapping, sequence-to-function deep learning, polygenic risk scores, single-cell heritability estimation
Source: lab pages
Currently hiring
“We are looking to recruit talented graduate students and postdoctoral researchers!”
Source: lab positions page
No funding stated
Poster
Wed Oct 21
2:30 pm
Building variant-anchored causal gene-protein regulatory networks from QTL fine-mapping, proteomics, and perturbation data
Statistical Genetics and Genetic Epidemiology
Population geneticsStatistical geneticsGene regulationExpression quantitative trait loci
Poster
Thu Oct 22
4:15 pm
Partitioning complex disease heritability by pathway-specific eQTL effects derived from single cell RNA-sequencing
Statistical Genetics and Genetic Epidemiology
Expression quantitative trait lociGene regulationIdentification of disease genesSingle-cell
Poster
Fri Oct 23
2:30 pm
PanCT: A framework for quantifying total and population-specific genomic diversity in the human pangenome
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyStatistical geneticsPopulation geneticsGenomics
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Leveraging genome-wide prediction models of gene expression to identify disease-critical genes and gene regulatory networks in outbred rat populations
Complex Traits and Polygenic Disorders
Collaborators: Seattle Children's Research Institute
Complex traitsStatistical geneticsGene regulationModel organisms
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
Multi-modal Causal Gene Prioritization and Nonlinear Tissue and Cell-type Interaction Risk Modeling Reveal the Regulatory Architecture of Childhood-onset Asthma
Statistical Genetics and Genetic Epidemiology
Collaborators: Children's Hospital
AsthmaPolygenic risk scoreGenome-wide association studyExpression quantitative trait loci
Gymrek Labgymreklab.com
Wet + dry lab~14 people
Develops computational tools for tandem-repeat variation in short-read and long-read whole-genome sequencing and uses MPRA and base editing. Studies human disease, ancestry and complex traits.
34 papers since 2024
Analysis and benchmarking of small and large genomic variants across tandem repeats
Nature Biotechnology, 2024
LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads
Genome biology, 2024
The emerging role of tandem repeats in complex traits
Nature Reviews Genetics, 2024
Source: OpenAlex author A5065055599
12 platforms and techniques
Works with
Short-read whole-genome sequencing, Long-read whole-genome sequencing, Massively parallel reporter assays (MPRA), Base editing
Techniques
Tandem-repeat genotyping, TR-based association studies, Mosaicism analysis, De novo mutation analysis, Genome editing in human iPSCs, Local ancestry methods, Machine learning, Mathematical models of TR mutation
Source: lab pages
Currently hiring
“If you are interested in post-doctoral positions or staff scientist positions please get in touch”
Source: lab positions page
No funding stated
Talk
Thu Oct 22
11:00 am
Functional dissection of promoter-proximal short tandem repeats reveals sequence class-specific regulatory mechanisms
Uptown Funk(tion): Don’t Believe Me, Just Perturb
Collaborators: HudsonAlpha Institute for Biotechnology
BioinformaticsExpression quantitative trait lociGene regulationMassively parallel sequencing
Poster
Thu Oct 22
4:15 pm
Genome-wide mapping of genetic determinants of somatic repeat expansion rates in outbred heterogeneous stock rats implicates Msh3
Molecular Effects of Genetic Variation
Somatic variantsTriplet and other repeatsBioinformaticsMosaicism
Poster
Thu Oct 22
4:15 pm
Admixture mapping identifies complex trait associations with African and Native American local ancestry in the All of Us Research Program
Evolutionary and Population Genetics
Collaborators: Yale University, University of Washington
Complex traitsGenotype-phenotype correlationsPopulation geneticsPopulation structure
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
UCSD Pangenome Browser: A Web-Based Platform for Interactive Pangenome Visualization
Omics Technologies
Collaborators: Stanford University, University of California, Berkeley +1 more
BioinformaticsComputational toolsGenetic variationGenomic structure
Bafna Labvbafna.github.io/lab
Dry lab~9 people
OMKar automates genome karyotyping using optical maps. Research focuses on identifying mechanisms of complex genome rearrangements in cancer, with a specific focus on ecDNA.
91 papers since 2024
Origins and impact of extrachromosomal DNA
Nature, 2024
Enhancing transcription–replication conflict targets ecDNA-positive cancers
Nature, 2024
Coordinated inheritance of extrachromosomal DNAs in cancer cells
Nature, 2024
Source: OpenAlex author A5028801735
Funded by NSF
NSF, Algorithms for Genetics: Epistatic Interactions, Haplotype Assembly, and Selection Signatures · 2011
“NSF Award Number 1115206. Directorate for Computer and Information Science and Engineering, 2011”
Source: lab pages
6 platforms and techniques
Analyzes
Optical maps, PacBio HiFi reads
Techniques
Deep learning, Genome karyotyping, 3D ecDNA architecture reconstruction, Breakage-fusion-bridge cycles
Source: lab pages
No openings posted
Talk
Wed Oct 21
1:55 pm
Accurate detection of Robertsonian translocations using Oxford Nanopore reads by estimating copy-number loss at acrocentric satellite junctions
Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery
Collaborators: Medical University of Vienna
Chromosomal abnormalitiesCopy number/structural variationDeep learningDiagnostics
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Accurate detection of Robertsonian translocations using Oxford Nanopore reads by estimating copy-number loss at acrocentric satellite junctions
Laboratory Genetics and Genomics
Collaborators: Medical University of Vienna
Chromosomal abnormalitiesCopy number/structural variationDeep learningDiagnostics
Palmer Labpalmerlab.org
Wet + dry lab~20 people
Studies addiction and psychiatric traits using GWAS, RNA-seq, human cohorts and outbred rats. Uses include behavioral genetics and pharmacologic target discovery.
101 papers since 2024
Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
The Farm Animal Genotype–Tissue Expression (FarmGTEx) Project
Nature Genetics, 2025
Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes
Nature Human Behaviour, 2024
Source: OpenAlex author A5031236440
Funded by National Institute on Drug Abuse (NIDA), National Institute on Drug Abuse (NIDA) +3 more
National Institute on Drug Abuse (NIDA), U01 · September 30, 2025-May 31, 2030
“A U01 grant from the National Institute on Drug Abuse (NIDA); "will start September 30, 2025 and end on May 31, 2030."”
National Institute on Drug Abuse (NIDA), U01 · July 1, 2025-March 31, 2030
“A new U01 grant from the National Institute on Drug Abuse (NIDA); "will start July 1, 2025 and end on March 31, 2030."”
National Institute on Drug Abuse (NIDA), P30DA060810 · 2024-2029
“funded by NIDA until 2029 (P30DA060810).”
+2 more on the lab page
Source: lab pages
11 platforms and techniques
Works with
double-digest genotyping-by-sequencing (ddGBS), Illumina platform, RNA-seq, AFFY_6.0 platform
Techniques
quantitative genetics, genome-wide association studies (GWAS), QTL mapping, imputation, N/NIH Heterogeneous Stock rats, Sprague Dawley rats, outbred mice
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
A data-driven framework for identifying heritable dimensions of complex choice behavior
Complex Traits and Polygenic Disorders
Collaborators: University of California, San Francisco, Oregon Health & Science University +1 more
Genome-wide association studyBehaviorComplex traitsGenetic mapping
Symposium
Fri Oct 23
9:40 am
Closing remarks
Translational Models for Substance Use Disorders
Bioinformatics Algorithmsbioalgorithms.ucsd.edu/people.html
Dry lab~6 people
Develops algorithms for DNA arrays, next-generation sequencing, mass spectrometry and immunosequencing data. Research covers genome assembly, proteomics, antibiotics discovery and comparative genomics.
10 papers since 2024
Complete sequencing of ape genomes
Nature, 2025
Synthetic lethality and the minimal genome size problem
mSphere, 2024
Source: OpenAlex author A5027480961
15 platforms and techniques
Analyzes
DNA arrays, Next-generation sequencing, Single-cell sequencing, Long-read sequencing, Mass spectrometry, Nanopore-based protein identification, Immunosequencing
Techniques
De Bruijn assembly, Genome assembly, De novo peptide sequencing, Spectral networks, Breakpoint graphs, Spliced alignment, Personalized immunogenomics, Top-down mass spectrometry
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
DiploFormer: Capturing Non-Additive Regulatory Effects on Gene Expression and Chromatin Accessibility
Artificial Intelligence and Machine Learning
Deep learningEpidemiologyExpression quantitative trait lociHaplotype
Ferguson Labcoleferguson.com/home
Wet + dry lab~10 people
Studies neuronal chromatin using CUT&RUN, ATAC-seq, Hi-C/Hi-ChIP, iPSC-derived neurons and mouse models. Targets neurodevelopmental disorders, neurodegeneration and neuroinflammation.
13 papers since 2024
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway
Cell Reports, 2025
Polycomb repressive complexes 1 and 2 independently and dynamically regulate euchromatin during cerebellar neurodevelopment
PLoS Genetics, 2025
Periostin: a promising biomarker in nonspecific orbital inflammation and orbit-involving IgG4 disease
Orbit, 2025
Source: OpenAlex author A5029686395
Funded by NINDS, NINDS +1 more
NINDS, R01 · 2024-2029
The NIH's standard multi-year research project grant.
“2024-2029 R01 (NINDS): Regulation of phase separation in neuronal heterochromatin”
NINDS, R21 · 2024-2026
“2024-2026 R21 (NINDS): Recognition and ubiquitination of neurodevelopmental chromatin regulators”
NICHD, K08 · 2019-2024
“2019-2024 K08 (NICHD): Ubiquitin signaling in epigenetic regulation of neuronal development”
Source: lab pages
12 platforms and techniques
Works with
CUT&RUN, ATAC-seq, Hi-C and Hi-ChIP, RNA-seq, Quantitative mass spectrometry-based proteomics, Single-cell electrophysiology, Live-cell imaging
Techniques
iPSC-derived neurons, Conditional mouse models, Embryonic stem-cell models, Molecular dynamics simulations, DNA methylation
Source: lab pages
Currently hiring
“We are recruiting curious and motivated post-doctoral fellows, graduate students and undergraduates.”
Source: lab positions page
Talk
Thu Oct 22
8:45 am
Loss of Bap1 disrupts enhancer activity and 3D genome organization in the developing brain
Chromatin in Motion: Epigenetic Control of Brain Development and Disease
EpigeneticsGene regulationNeurodevelopmentalGenomic structure
Goren Labgoren-lab.github.io
Wet + dry lab~17 people
Studies chromatin regulation using automated ChIP-seq, single-cell RNA-seq, quantitative immunofluorescence and inducible degradation. Focuses on developmental chromatin regulation, cell-cycle chromatin dynamics and epigenetic memory.
16 papers since 2024
YAP-driven malignant reprogramming of oral epithelial stem cells at single cell resolution
Nature Communications, 2025
Genome editing with programmable base editors in human cells
Methods in enzymology on CD-ROM/Methods in enzymology, 2025
The Wild West of spike-in normalization
Nature Biotechnology, 2024
Source: OpenAlex author A5008291058
Funded by CIRM
CIRM, Trainee Fellow · active
“Polo is a CIRM Trainee Fellow graduate student”
Source: lab pages
9 platforms and techniques
Runs
automated ChIP-seq, single-cell RNA-seq, quantitative immunofluorescence, PQ-seq
Techniques
inducible degradation, genetic perturbation, cell-cycle synchronization, hiPSC-derived neural cells, pluripotent stem-cell culture
Source: lab pages
Currently hiring
“Together with The Gymrek Lab we are looking for a post-doctorate researcher”
Source: lab positions page
Poster
Fri Oct 23
2:30 pm
Multiplexed measurements of protein-protein interactions and protein abundance across cellular conditions using Prod&PQ-seq
Omics Technologies
Collaborators: Fulcrum Genomics, HudsonAlpha Institute for Biotechnology
Proteomics
Quantitative Cancer Control (QCC) Labqcclab.com/people
Wet + dry lab~7 people
Integrates genome sequencing with clinico-pathological and molecular cancer data using mechanistic models and machine learning. Focuses on cancer evolution, early detection and risk prediction.
25 papers since 2024
Incomplete human reference genomes can drive false sex biases and expose patient-identifying information in metagenomic data
Nature Communications, 2025
Low-coverage whole genome sequencing of low-grade dysplasia strongly predicts advanced neoplasia risk in ulcerative colitis
Gut, 2025
Digital twins are integral to personalizing medicine and improving public health
Nature Reviews Gastroenterology & Hepatology, 2024
Source: OpenAlex author A5081116379
9 platforms and techniques
Analyzes
Genome sequencing, DNA methylation, Metagenomic data
Techniques
Mechanistic modeling, Machine learning, Phylogenetics, Risk stratification, Longitudinal data analysis, Bayesian inference
Source: lab pages
Currently hiring
“interested in applying to an open postdoctoral position on our team”
Source: lab positions page
No funding stated
Poster
Thu Oct 22
4:15 pm
Unsupervised decomposition of an ML-based PGS for inflammatory bowel disease reveals novel genetic subtypes associated with clinical outcomes
Artificial Intelligence and Machine Learning
Collaborators: Icahn School of Medicine at Mount Sinai
Artificial intelligencePolygenic risk scoreAutoimmune disorderMachine learning
Sanchez-Roige Labsanchezroigelab.org
Dry lab~12 people
Analyzes 23andMe, All of Us Research Program and electronic health-record data with bioinformatics. Studies genetic drivers of substance-use disorders and comorbid physical and mental health.
13 papers since 2024
Multivariate genetic analyses of 2.2 million individuals reveal broad and substance-specific pathways of addiction risk
Nature Mental Health, 2026
Natural Language Processing for Substance Use Disorder Information Extraction: A Systematic Literature Review
Current Addiction Reports, 2026
Multivariate, Multi-Omic Analysis in 799,429 Individuals Identifies 134 Loci Associated with Somatoform Traits
Complex Psychiatry, 2026
Source: OpenAlex author A5124412519
Funded by Research Award, Award +1 more
Research Award, Genome-wide association and fine-mapping of smoking using tandem repeats and structural variants
“Dr. Sanchez-Roige received a three-year Research Award entitled”
Award, Uncovering Genetic, Clinical, Behavioral, and Environmental Determinants of Maternal Smoking and Morbidity
“received an award entitled Uncovering Genetic, Clinical, Behavioral, and Environmental Determinants of Maternal Smoking and Morbidity”
Postdoctoral Award, Exploring the contribution of rare variants in smoking behaviors
“[name] received a Postdoctoral Award for Exploring the contribution of rare variants in smoking behaviors.”
Source: lab pages
8 platforms and techniques
Analyzes
All of Us Researcher Workbench, 23andMe, Electronic health records
Techniques
Genome-wide association studies, Genomic structural equation modeling, Natural language processing, Cross-species integration, Fine-mapping and structural-variant analysis
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
The Genetic Architecture of Wisdom: A Genome-Wide Association Study in 131,870 Individuals
Statistical Genetics and Genetic Epidemiology
Genome-wide association studyPolygenic risk scoreComplex traitsBehavior
Sebat Labsebatlab.org/people
Wet + dry lab~8 people
Analyzes whole-genome sequencing, exomes and single-cell genomic data from iPSC-derived brain organoid models. Uses causal inference to study autism and gene-environment effects.
39 papers since 2024
The Psychiatric Genomics Consortium: discoveries and directions
The Lancet Psychiatry, 2025
Cell type- and factor-specific nonsense-mediated RNA decay
Nucleic Acids Research, 2025
A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats
Cell Genomics, 2024
Source: OpenAlex author A5088728907
Funded by California Institute of Regenerative Medicine, National Institute of Health +1 more
California Institute of Regenerative Medicine, Verge Center at UCSD · active
“Funded by the California Institute of Regenerative Medicine (CIRM)”
National Institute of Health, Autism Data Science Initiative · active
“Funded by the National Institute of Health”
NIH, REACH Project · active
“As part of our NIH-funded genome sequencing studies of autism (the REACH Project)”
Source: lab pages
8 platforms and techniques
Analyzes
whole-genome sequencing, single-cell genomic datasets
Techniques
causal inference frameworks, predictive models integrating genetic, environmental, and clinical data, stem cell technologies, brain organoid technologies, Random Forests, human iPSC-derived brain organoid models
Source: lab pages
Currently hiring
“We invite you to join our team! Below are some current positions and how to apply.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
Combinatorial effects of CNVs, polygenic background and environment on complex traits
Complex Traits and Polygenic Disorders
Collaborators: Radboud University Medical Center, Health Sciences University +27 more
Copy number/structural variationComplex traitsSkeletal systemRare variants
1 more presenter — research group not yet identified

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