Johns Hopkins University at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Johns Hopkins University brings 27 presentations from 15 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, cancer, and population genetics, alongside computational and clinical genetics. The McCoy Lab studies 99,765 products of conception, the Timp Lab resolves breast cancer organoid heterogeneity, and the Battle Lab uses developmental GTEx data to study pediatric disease.
| Organization | ASHG 2026 Attendance |
|---|---|
Johns Hopkins University Baltimore, Maryland | 7 PhD Students · 5 Postdocs · 5 PIs · 1 Staff Scientist |
McCoy Labmccoy-lab.org Uses RNA-seq, long-read RNA-seq and preimplantation genetic testing data. Studies genome function, reproduction, development and evolution.
| Talk Wed Oct 21 11:00 am Improving gene expression prediction across diverse populations Expression quantitative trait lociGenetic variationPopulation geneticsTranscriptome Talk Wed Oct 21 2:19 pm Bayesian ancestral state reconstruction of somatic evolution reveals hidden complexity of hematopoiesis Somatic variantsEvolutionHematopoietic systemBioinformatics Talk Thu Oct 22 11:00 am Genetic architecture and fitness costs of chromosomal abnormalities from 99,765 products of conception AneuploidyDevelopmentStatistical genetics Talk Thu Oct 22 11:30 am Long-read RNA sequencing reveals genetic effects on isoform expression in a globally diverse sample Long-read sequencingGenetic variationGene regulationTranscriptome Poster Thu Oct 22 4:15 pm Improving trans-eQTL mapping across diverse populations using long-read RNA-seq data Expression quantitative trait lociLong-read sequencingPopulation geneticsRNA-seq Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Bayesian ancestral state reconstruction of somatic evolution reveals hidden complexity of hematopoiesisBioinformaticsEvolutionHematopoietic systemSomatic variants |
Timp Labtimplab.org Recent projects range from diagnosis of infectious disease using nanopore sequencing. We are creating new tools to explore genetics.
| Poster Wed Oct 21 2:30 pm Targeted long-read single-cell DNA sequencing resolves tumor heterogeneity in breast cancer organoids CancerLong-read sequencingSequencing technologySingle-cell Poster Thu Oct 22 4:15 pm Title: Single-molecule protein sequencing resolves histone variant and post-translational modification co-occurrence within individual nucleosomes ChromatinEpigeneticsMethodologyProteomics Session Fri Oct 23 3:00 pm |
Battle Labbattlelab.jhu.edu Analyzes large-scale genomic sequencing data with machine-learning and statistical methods. Uses GTEx and disease-genetics studies to model gene regulation and disease risk.
| Poster Wed Oct 21 2:30 pm Cell-type specific polygenic risk scores nominate disease-relevant genes and reveal distinct cis and trans-regulatory effects Complex diseasesIdentification of disease genesPolygenic risk scoreProteomics Poster Thu Oct 22 4:15 pm Developmental GTEx data provides insight into gene regulatory dynamics with implications for pediatric disease DevelopmentTranscriptomeRegulation of transcriptionDatabases |
Schatzlabschatz-lab.org Analyzes Illumina, PacBio, Oxford Nanopore and 10X Genomics data with algorithms for assembly. Applies them to human disease, plant genomes and environmental metagenomics.
| Poster Wed Oct 21 2:30 pm Enabling Cloud Analysis across NIH Common Fund Projects with the CFDE Cloud Workspace Implementation Center (CWIC) BioinformaticsComputational toolsGenomicsMulti-omics Poster Fri Oct 23 2:30 pm AnVIL: Secure Cloud Infrastructure for Collaborative Genomic Science at Scale GenomicsMulti-omicsComputational toolsElectronic health records |
Center for Pediatric Health Equity Researchhopkinsmedicine.org/all-childrens-hospital/academics/research/institute-for-clinical-and-translational-research/center-for-pediatric-health-equity-research Studies pediatric health equity through multilingual surveys, focus groups and tissue-donation research. Work addresses child health disparities with community partners and clinical, policy and program change.
| Symposium Wed Oct 21 9:20 am Poster Thu Oct 22 4:15 pm Polygenic Risk Assessment and Epigenetic Profiling of Metabolic Health in Pediatric Obesity ObesityMethylationPolygenic risk scoreLong-read sequencing |
Arking Labhopkinsmedicine.org/research/labs/t/the-arking-lab Develops GWAS methods using genetic, RNA-expression, DNA-methylation and protein-expression data, plus cell culture and zebrafish. Studies autism and cardiovascular genomics.
| Talk Thu Oct 22 11:30 am Mitochondrial DNA variation shapes the human blood proteome and metabolome, highlighting ER stress, oxidative muscle biology, and pyruvate metabolism MitochondriaMulti-omicsMetabolomicsProteomics |
Cytogenetics/Cytogenomics Laboratorypathology.jhu.edu/cytogenetics Runs cancer, prenatal and postnatal chromosome analysis, FISH assays and SNP microarrays. Provides clinical testing and customized cytogenetics services for institutional cancer researchers.
| Talk Wed Oct 21 11:45 am Multimodal genomic profiling of solid tumors using optical genome mapping, long-read nanopore sequencing, and deep next-generation sequencing: Diagnostic, prognostic, and therapeutic significances Cancer cytogeneticsChromosomal abnormalitiesChromosomal structure/functionDiagnostics |
Florea Labflorealab.org Develops algorithms and deep-learning models for RNA-seq, long RNA sequencing reads and genomic sequences. Uses them for alternative splicing, transposable-element exonization and host-pathogen studies.
| Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Estimating the extent of Alu exonization in the human genome with a deep learning modelArtificial intelligenceGenomic structureSplicing mechanismsTranscriptome |
Hansen Labhansenlab.org Analyzes RNA-seq, DNA methylation and Nanopore sequencing data. Studies human epigenetics, gene expression and chromatin.
| Talk Thu Oct 22 9:00 am Time-course Perturb-seq of epigenetic regulators reveal convergence on autism-risk transcriptional programs during neurodevelopment EpigeneticsChromatinIntellectual and developmental disabilityNeurodevelopmental |
McCallion Laboratoryhopkinsmedicine.org/research/labs/a/andrew-mccallion-laboratory Develops functional-genetic assays in zebrafish, mice and in vitro, using reporter transgenes, ChIP-seq, ATAC-seq and single-cell RNA-seq. Studies cis-regulatory elements and neurological disease.
| Poster Thu Oct 22 4:15 pm Implementation of safe-harbor CRISPRi and CRISPRa in zebrafish for the modulation of human disease gene candidates Gene regulationGenome editing/CRISPRTransgenic model |
Newby Labnewbylab.jhmi.edu Develops Cas9-derived base and prime editors for gene regulation and genetic disease. Tests editing in human cells and mice.
| Poster Thu Oct 22 4:15 pm Development of genome editing strategies for therapeutic correction of GNE Myopathy Genome editing/CRISPRMendelian disorderPrecision medicineTranslational studies and preclinical trials |
T32 programhopkinsmedicine.org/geriatric-medicine-gerontology/education/t32/fellows Trains investigators using long-read sequencing, multi-omics, UK Biobank and All of Us data. Research spans aging biology, skeletal muscle, mobility and dementia.
| Poster Fri Oct 23 2:30 pm Benchmarking Long-Read Sequencing Modalities to Resolve Mitochondrial Genetic Variation in Aging Disorders BioinformaticsComputational toolsGenetic variationLong-read sequencing |
Talk Fri Oct 23 2:00 pm Genome-wide and multi-omic analyses of irritable bowel syndrome across 25 cohorts implicate immune, circadian, and gut-brain signaling pathways Complex traitsGastrointestinal systemGenome-wide association studyMulti-omics | |
Ludwig Center and Lustgarten Laboratory Works in cancer genetics and clinical genetics. | Talk Sat Oct 24 10:30 am Logic-gated CAR-T cells for the treatment of relapsed acute myeloid leukemia post-haploidentical bone marrow transplant CancerGene therapyGenome editing/CRISPRPrecision medicine |
Pan Lab Works in population genetics. | Poster Thu Oct 22 4:15 pm Uncertainty in polygenic risk prediction: does conformal prediction improve clinical decisions? Polygenic risk scoreRisk assessmentStatistical geneticsMethodology |
| 2 more presenters — research group not yet identified | |
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