ASHG 2026 · Tier 1 Academic

University of North Carolina at Chapel Hill at ASHG 2026

Name: ASHG 2026 Annual Meeting
Start: 2026-10-20
End: 2026-10-24
Location: Montréal

Chapel Hill, North Carolina

University of North Carolina at Chapel Hill at ASHG 2026 in Montréal: 30 presentations (25 posters, 3 platform talks, 1 featured symposium); 13 research groups.

presentations on the program

research groups identified

sessions invited to or moderated

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
University of North Carolina at Chapel Hill Chapel Hill, North Carolina	13 PhD Students · 4 PIs · 1 Faculty · 1 Undergrad
Phanstiel Labphanstiel-lab.med.unc.edu Wet + dry lab Studies 3D chromatin, genomic, proteomic and bioinformatic data using genome editing and genomic library preparation. Applies them to leukemia, Alzheimer’s disease and osteoarthritis. 61 papers since 2024 › Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk Cell Genomics, 2025 CRISPR Screening of Transcribed Super-Enhancers Identifies Drivers of Triple-Negative Breast Cancer Progression Cancer Research, 2024 Mariner: explore the Hi-Cs Bioinformatics, 2024 Source: OpenAlex author A5005038887 Funded by NIH/NIGMS, NIH/NIAMS +4 more › NIH/NIGMS, R35 MIRA · 2018-2028 “NIH/NIGMS R35 MIRA, 2018-2028” NIH/NIAMS, R01 · 2022-2027 The NIH's standard multi-year research project grant. “NIH/NIAMS R01, 2022-2027” NIH/NCI, R01 · 2022-2027 The NIH's standard multi-year research project grant. “NIH/NCI R01, 2022-2027” +3 more on the lab page Source: lab pages 6 platforms and techniques › Techniques Cell culture, Genome editing, Genomic library preparation, Bioinformatic analysis, 3D chromatin architecture, Myeloid progenitor cells, macrophages, microglia and chondrocytes Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Multi-omic response QTL mapping in human chondrocytes identifies regulatory mechanisms underlying osteoarthritis risk Molecular Effects of Genetic Variation Collaborators: The University of Texas Medical Branch at Galveston ChromatinDeep learningGenome-wide association studyMulti-omics Poster Thu Oct 22 4:15 pm Aberrant chromatin looping by NUP98-HOXA9 is constrained by CTCF and facilitated by cohesin Cancer CancerChromatinEpigeneticsGenomics Poster Fri Oct 23 2:30 pm Integrating multiomics and deep learning to reveal putative osteoarthritis risk variants and genes Artificial Intelligence and Machine Learning Collaborators: North Carolina State University GenomicsGenetic variationVariant interpretationBioinformatics Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Multi-omic profiling and deep learning nominate causal variants and effectors genes at Alzheimer’s disease GWAS loci in human microglia Epigenomics Alzheimer’s diseaseEpigeneticsGenetic variationGenomics
Raffield Labmed.unc.edu/genetics/raffieldlab Dry lab~9 people Analyzes whole-genome sequencing, RNA-seq, flow-cytometry, proteomic and metabolomic cohort data. Studies hematology, inflammation, Alzheimer’s disease and cardiometabolic disease in diverse populations. 219 papers since 2024 › Genetic drivers of heterogeneity in type 2 diabetes pathophysiology Nature, 2024 Clonal Hematopoiesis and Incident Heart Failure With Preserved Ejection Fraction JAMA Network Open, 2024 Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI Nature Communications, 2024 Source: OpenAlex author A5042360941 Funded by National Institute of Aging (NIA), National Heart, Lung, and Blood Institute (NHLBI) › National Institute of Aging (NIA), NRSA Individual Predoctoral Fellowship (F31) · active “[name] has been awarded a National Research Service Award (NRSA) Individual Predoctoral Fellowship (F31) from the National Institute of Aging (NIA)” National Heart, Lung, and Blood Institute (NHLBI), NRSA Individual Predoctoral Fellowship (F31) · active “[name] has been awarded a National Research Service Award (NRSA) Individual Predoctoral Fellowship (F31) from the National Heart, Lung, and Blood Institute (NHLBI)” Source: lab pages 12 platforms and techniques › Analyzes Whole-genome sequencing (WGS), RNA-seq, Flow cytometry-based immune-cell measures, Proteomic data, Metabolomic data, Methylomic data Techniques Rare-variant aggregate tests, Genotype imputation, Polygenic scores, Functional-annotation and QTL integration, Transcriptome-wide association studies (TWAS), Canonical correlation analysis Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Alzheimer’s disease polygenic risk scores association with circulating proteins Complex Traits and Polygenic Disorders Alzheimer’s diseaseMendelian randomizationPolygenic risk scoreProteomics Poster Wed Oct 21 2:30 pm Evaluating precision and linearity of a nanoparticle enrichment mass-spectrometry proteomics platform to inform future genetic studies Omics Technologies Collaborators: University of Washington ProteomicsPopulation geneticsGenetic epidemiologyMulti-omics Poster Fri Oct 23 2:30 pm Genetics in Context: Social Determinants Modify Polygenic Risk Across Multiple Cardiometabolic Diseases Complex Traits and Polygenic Disorders Collaborators: Boston University, Broad Institute +4 more Polygenic risk scoreGene environment interactionRisk assessmentGenetic epidemiology
Heinzen Labtarheels.live/heinzenlab/our-team Wet + dry lab~11 people Studies rare epilepsy variants with short- and long-read sequencing, single-cell RNAseq, SoMoSeq and hiPSC-derived neuronal models. Tests treatment approaches for SLC35A2 epilepsy and neurodevelopmental disorders. 26 papers since 2024 › Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Nature Neuroscience, 2024 Loss of Slc35a2 alters development of the mouse cerebral cortex Neuroscience Letters, 2024 Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis Epilepsia, 2024 Source: OpenAlex author A5030791987 Funded by NIH, NIH +1 more › NIH · active “Dr. Heinzen directs an NIH-funded research program” NIH, F99K00 · active “Ana is a NIH F99K00 fellow” Burroughs Wellcome Fund · active “a Burroughs Wellcome Fund fellow” Source: lab pages 10 platforms and techniques › Works with SoMoSeq, Single-cell RNAseq, Next-generation short-read sequencing, Long-read whole-genome sequencing, Multi-electrode array technologies Techniques CRISPR screening, Lectin blotting, hiPSC-derived neuronal models, Full-length cDNA sequencing in single nuclei, DNA extraction Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Identifying potential genomic modifiers of SLC35A2 epilepsy using targeted CRISPR activation in human iPSC derived neurons Genetic Therapies and Precision Medicine EpilepsyGenome editing/CRISPRPrecision medicine Poster Fri Oct 23 2:30 pm Identification of Somatic KRAS Variants in individuals with Intractable Neocortical Epilepsy using Duplex Sequencing Molecular Effects of Genetic Variation Collaborators: Boston Children's Hospital EpilepsyIdentification of disease genesMosaicismNeurogenetics
Li Groupxihaoli.org Dry lab~12 people Develops statistical methods and computational tools for WGS, WES and multi-omics data. Studies genetic variation, molecular function and phenotypes through TOPMed and IGVF. 57 papers since 2024 › Integrating common and rare variants improves polygenic risk prediction across diverse populations Nature Communications, 2026 Deciphering the impact of genomic variation on function Nature, 2024 Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height Nature Communications, 2024 Source: OpenAlex author A5088578947 Funded by NHLBI, NHGRI › NHLBI, TOPMed Program · active “as part of NHLBI TOPMed Program” NHGRI, IGVF Consortium · active “as part of NHGRI IGVF Consortium” Source: lab pages 9 platforms and techniques › Analyzes Whole-genome sequencing (WGS), Whole-exome sequencing (WES), Single-cell sequencing Techniques Rare-variant association analysis, WGS/WES meta-analysis, Multi-trait analysis, Polygenic risk prediction, Causal genetic variant prioritization, AI/ML for noncoding-genome interpretation Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm RADIANT: A unified framework for association analysis of de novo and inherited rare variants in family-based sequencing studies Statistical Genetics and Genetic Epidemiology Collaborators: University of Southern California, Northeast Normal University +1 more AutismCandidate geneStatistical geneticsRare variants Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Ancestry-Specific Regulatory Landscape of the Human Plasma Proteome in Admixed Populations Statistical Genetics and Genetic Epidemiology Collaborators: University of Pennsylvania Genetic mappingHaplotypePopulation geneticsProteomics
BIG-S² Groupmed.unc.edu/bigs2 Dry lab Develops statistical methods for MRI, fMRI, diffusion tensor imaging, genomic, epigenetic, proteomic, and metabolic data. Studies organ structure and disease mechanisms. 117 papers since 2024 › Source-free unsupervised domain adaptation: A survey Neural Networks, 2024 Eye-brain connections revealed by multimodal retinal and brain imaging genetics Nature Communications, 2024 Advancing microbial production through artificial intelligence-aided biology Biotechnology Advances, 2024 Source: OpenAlex author A5077961759 9 platforms and techniques › Analyzes MRI, Functional MRI, Diffusion tensor imaging Techniques Functional data analysis, Deep learning, Reinforcement learning, Machine learning, Causal inference, Monte Carlo methods Source: lab pages No funding stated · No openings posted	Talk Wed Oct 21 1:47 pm AFT-LDSC: The genetic architecture of disease timing reveals distinct drivers of onset and progression across the human phenome Advances in Population Genetics, Genetic Epidemiology, and Omics HeritabilityGenome-wide association studyStatistical geneticsPopulation genetics Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice AFT-LDSC: The genetic architecture of disease timing reveals distinct drivers of onset and progression across the human phenome Statistical Genetics and Genetic Epidemiology Genome-wide association studyHeritabilityLarge-scale biobanksPopulation genetics
Hsueh Labmed.unc.edu/… Wet lab Studies osteoarthritis with multi-omic technologies, in vitro cell culture and cartilage explant models. Works within UNC’s Thurston Arthritis Research Center. 5 papers since 2024 › The Role of microRNAs in Arthrofibrosis Following OARSI Total Knee Arthroplasty for Osteoarthritis Osteoarthritis and Cartilage, 2026 Anabolic indices of matrix proteins identify regenerative small RNA intrinsic to human cartilage Science Advances, 2025 Molecular biomarker approaches to prevention of post-traumatic osteoarthritis Nature Reviews Rheumatology, 2024 Source: OpenAlex author A5020515330 Funded by NIH › NIH, K01 · active “His NIH K01 award investigates synovial cell involvement in joint anabolism.” Source: lab pages 3 platforms and techniques › Techniques Advanced in vitro cell culture systems, Cartilage explant models, Proteomics analysis of musculoskeletal tissue Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Transcriptomic Predictors of Alzheimer’s Disease Age‑at‑Onset Identified Through Stability‑Selected Elastic Net Modeling Artificial Intelligence and Machine Learning Collaborators: Duke University Alzheimer’s diseaseGenetic variationIdentification of disease genesMachine learning
Kelada Labkeladalab.web.unc.edu Wet + dry lab~6 people Cultures donor-derived bronchial epithelial cells at air-liquid interface and studies Collaborative Cross and Diversity Outbred mouse populations. Maps genetic effects on ozone and asthma/COPD susceptibility. 17 papers since 2024 › Culture media influences primary human bronchial epithelial cell morphology, differentiation status, and transcriptional response to ozone exposure Toxicological Sciences, 2025 EndoPRS: Incorporating endophenotype information to improve polygenic risk scores for clinical endpoints—A study in asthma The American Journal of Human Genetics, 2025 Multi-omics in nasal epithelium reveals three axes of dysregulation for asthma risk in the African Diaspora populations Nature Communications, 2024 Source: OpenAlex author A5035044136 Funded by National Institute of Environmental Health Sciences, National Heart Lung and Blood Institute › National Institute of Environmental Health Sciences · active “grants from the National Institute of Environmental Health Sciences” National Heart Lung and Blood Institute · active “grants from the National Heart Lung and Blood Institute” Source: lab pages 10 platforms and techniques › Runs Air-liquid interface culture, Ozone inhalation exposure system, Immunohistochemistry, Alcian blue-periodic acid–Schiff staining, Methacholine challenge Techniques Quantitative trait locus mapping, Gene-environment interaction analysis, Systems genetics, Transcriptional profiling, Collaborative Cross mouse models Source: lab pages Currently hiring › “The Kelada Lab is seeking to hire a new research technician” Source: lab positions page	Poster Thu Oct 22 4:15 pm Allele-Specific Expression in a Primary Human Cell Model of Ozone Pollution Exposure Molecular Effects of Genetic Variation Gene environment interactionRespiratory systemComplex traitsTranscriptome
Li Group @ UNC-Chapel Hillxihaoli.org Dry lab~12 people Develops statistical methods and computational tools for WGS, WES and multi-omics data. Studies genetic variation, molecular function and phenotypes through TOPMed and IGVF. 57 papers since 2024 › Integrating common and rare variants improves polygenic risk prediction across diverse populations Nature Communications, 2026 Deciphering the impact of genomic variation on function Nature, 2024 Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height Nature Communications, 2024 Source: OpenAlex author A5088578947 Funded by NHLBI, NHGRI › NHLBI, TOPMed Program · active “as part of NHLBI TOPMed Program” NHGRI, IGVF Consortium · active “as part of NHGRI IGVF Consortium” Source: lab pages 9 platforms and techniques › Analyzes Whole-genome sequencing (WGS), Whole-exome sequencing (WES), Single-cell sequencing Techniques Rare-variant association analysis, WGS/WES meta-analysis, Multi-trait analysis, Polygenic risk prediction, Causal genetic variant prioritization, AI/ML for noncoding-genome interpretation Source: lab pages No openings posted	Moderator Wed Oct 21 11:00 am Rare Variants, Big Insights: Illuminating Human Disease Genetics Poster Thu Oct 22 4:15 pm Whole genome sequencing analyses reveal genetic architecture underlying chronic fatigue Complex Traits and Polygenic Disorders Collaborators: Northeast Normal University Exome/genome sequencingGenome-wide association studyRare variantsStatistical genetics
Love Labmikelove.github.io Dry lab~5 people Uses statistical models and open-source software for short-read RNA-seq, long-read RNA-seq, chromatin-accessibility and MPRA data. Studies disease-associated GWAS variants and molecular phenotypes with UNC collaborators. 132 papers since 2024 › A systematic benchmark of Nanopore long-read RNA sequencing for transcript-level analysis in human cell lines Nature Methods, 2025 Deciphering the impact of genomic variation on function Nature, 2024 Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain Science, 2024 Source: OpenAlex author A5049770701 Funded by NHGRI, Wellcome Trust +1 more › NHGRI, EOSS award · active “Funding provided by NHGRI and Wellcome Trust – EOSS award.” Wellcome Trust, EOSS award · active “Funding provided by NHGRI and Wellcome Trust – EOSS award.” Chan Zuckerberg Initiative, EOSS award · active Philanthropic science funding from the Chan Zuckerberg Initiative. “Funding provided by CZI – EOSS award.” Source: lab pages 14 platforms and techniques › Analyzes short-read RNA-seq, long-read RNA-seq, in vivo MPRA, chromatin-accessibility assays, single-cell RNA-seq, NanoString nCounter, MRI Techniques MPRA library design and analysis, negative-binomial GLM differential expression, differential transcript usage, Bayesian model selection, generalized fused lasso, compressed-sensing deconvolution, TWAS-like association testing Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Comprehensive signal-based MPRA experiment of liver-trait-associated loci Complex Traits and Polygenic Disorders TranscriptionVariant interpretationChromatinComplex traits
Mohlke Labmohlke.web.unc.edu Wet + dry lab~12 people Generates and analyzes GWAS, RNA-seq, ATAC-seq and CRISPR data in human populations and cells. Targets type 2 diabetes, obesity and cardiovascular risk with IGVF. 74 papers since 2024 › Genetic drivers of heterogeneity in type 2 diabetes pathophysiology Nature, 2024 Deciphering the impact of genomic variation on function Nature, 2024 Pla2g12b drives expansion of triglyceride-rich lipoproteins Nature Communications, 2024 Source: OpenAlex author A5049993833 Funded by NIH › NIH, F31 fellowship · 2025 “[name] was awarded an F31 fellowship from the NIH” Source: lab pages 14 platforms and techniques › Works with single-nucleus RNA-seq, metabolomics, massively parallel reporter assay, affinity-based proteomics, RNA-seq, ATAC-seq, liver cell-type multiome Techniques genome-wide association studies, eQTL analysis, CRISPR/Cas-based genome editing, prime editing, CRISPRi, transcriptional assays, massively parallel reporter assays Source: lab pages No openings posted	Symposium Fri Oct 23 8:15 am Introduction The IGVF Consortium: Deciphering the Impact of Genomic Variation on Genome Function
Lu Laboratoryqlu-lab.org Works in population genetics.	Poster Wed Oct 21 2:30 pm Accounting for brain cellular composition in proteomic association studies Statistical Genetics and Genetic Epidemiology Collaborators: University of South Florida, Rush University Statistical geneticsProteomicsRNA-seqBrain/nervous system
Pajukanta Research Labpajukantalab.dgsom.ucla.edu/lab-members Research group.	Talk Sat Oct 24 9:00 am Functional dissection of regulatory variants in type 2 diabetes using massively parallel reporter assays in two cell types Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity Collaborators: University of Michigan, Boston University +7 more Genome-wide association studyComplex diseasesGene regulationGenetic variation
Genetic Determinants of Neurological and Developmental Disorders (GDNDD) study Works in rare disease.	Poster Fri Oct 23 2:30 pm Manifesting missing mosaics: Research genomic analysis identifies de novo mosaic SCN2A and DNMT3A variants in unrelated individuals with prior negative clinical genetic testing Mendelian Phenotypes BioinformaticsMosaicismNeurogeneticsVariant calling
9 more presenters — research group not yet identified

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