ASHG 2026 · Tier 1 Academic

Johns Hopkins University at ASHG 2026

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

Baltimore, Maryland

Johns Hopkins University at ASHG 2026 in Montréal: 26 presentations (16 posters, 7 platform talks, 2 lightning talks); 14 research groups.

presentations on the program

research groups identified

Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

Organization	ASHG 2026 Attendance
Johns Hopkins University Baltimore, Maryland	7 PhD Students · 4 Postdocs · 4 PIs · 1 Staff Scientist
McCoy Labmccoy-lab.org Dry lab~9 people Uses RNA-seq, long-read RNA-seq and preimplantation genetic testing data. Studies genome function, reproduction, development and evolution. 32 papers since 2024 › Complete sequencing of ape genomes Nature, 2025 The complete sequence and comparative analysis of ape sex chromosomes Nature, 2024 Sources of gene expression variation in a globally diverse human cohort Nature, 2024 Source: OpenAlex author A5077891969 Funded by National Institutes of Health, National Science Foundation +6 more › National Institute of General Medical Sciences, NIH, R35 fellowship · through 2029 “Our lab was awarded an R35 fellowship from the National Institute of General Medical Sciences of the NIH, funding our research through 2029.” Burroughs Wellcome Fund, Next Generation Pregnancy Initiative Award · 2026 “The lab receives a Next Generation Pregnancy Initiative Award from the Burroughs Wellcome Fund” National Institutes of Health · active “National Institutes of Health” +5 more on the lab page Source: lab pages 13 platforms and techniques › Works with RNA-seq, long-read RNA-seq, preimplantation genetic testing, low-coverage sequencing of single gametes, 24-chromosome SNP-based preimplantation genetic screening Techniques computational and statistical human genetics, graph-based genotyping of structural variants, haplotype-aware methods, phylogenetics, Hidden Markov models, haplotype phasing and imputation, approximate Bayesian computation, SLiM simulations Source: lab pages Currently hiring › “We are recruiting trainees interested in using computational and statistical approaches to study human genome function and evolution.” Source: lab positions page	Talk Wed Oct 21 11:00 am Improving gene expression prediction across diverse populations Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions 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 Advancing Precision Oncology with AI, Functional Genomics, and Multi-Omics: From Risk Prediction to Tumor Evolution and Therapeutic Discovery Somatic variantsEvolutionHematopoietic systemBioinformatics Talk Thu Oct 22 11:00 am Genetic architecture and fitness costs of chromosomal abnormalities from 99,765 products of conception Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis Collaborators: Stanford University AneuploidyDevelopmentStatistical genetics Talk Thu Oct 22 11:30 am Long-read RNA sequencing reveals genetic effects on isoform expression in a globally diverse sample Pivoting from Gene-Level Analyses to Isoform-Resolved Biology Collaborators: University of Washington, Pacific Biosciences +3 more 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 Molecular Effects of Genetic Variation 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 hematopoiesis Cancer BioinformaticsEvolutionHematopoietic systemSomatic variants
Battle Labbattlelab.jhu.edu Dry lab 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. 49 papers since 2024 › A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex Science, 2024 Sources of gene expression variation in a globally diverse human cohort Nature, 2024 Artificial Intelligence and Technology Collaboratories: Innovating aging research and Alzheimer's care Alzheimer s & Dementia, 2024 Source: OpenAlex author A5063708781 Funded by NIH, Searle award +2 more › NIH · active “ongoing research initiatives, from building integrative networks for genomic analysis of autism, supported by the NIH” Johns Hopkins University, Discovery Award · 2019 “recipient of a 2019 Johns Hopkins Discovery Award” Johns Hopkins University, Catalyst Award · 2017 “a 2017 Johns Hopkins Catalyst Award” +1 more on the lab page Source: lab pages 5 platforms and techniques › Techniques machine learning, statistical methods, computational biology, personal genomics, rare genetic variant analysis Source: lab pages Currently hiring › “We are seeking motivated postdoc candidates to join our lab.” Source: lab positions page	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 Statistical Genetics and Genetic Epidemiology Collaborators: Emory University, The Ohio State University 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 Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: KTH Royal Institute of Technology, Barcelona Supercomputing Center +4 more DevelopmentTranscriptomeRegulation of transcriptionDatabases
Schatzlabschatz-lab.org Dry lab~24 people Analyzes Illumina, PacBio, Oxford Nanopore and 10X Genomics data with algorithms for assembly. Applies them to human disease, plant genomes and environmental metagenomics. 62 papers since 2024 › Complete sequencing of ape genomes Nature, 2025 The Galaxy platform for accessible, reproducible, and collaborative data analyses: 2024 update Nucleic Acids Research, 2024 The complete sequence and comparative analysis of ape sex chromosomes Nature, 2024 Source: OpenAlex author A5058192453 Funded by NSF, Sloan Foundation › NSF, CAREER award · active “I was granted an NSF CAREER award” Sloan Foundation, Fellowship · active “a Sloan Foundation Fellowship” Source: lab pages 11 platforms and techniques › Analyzes Illumina, PacBio, Oxford Nanopore, 10X Genomics Techniques de novo genome assembly, variant detection, sequence alignment, RNA-seq, metagenomics, cloud computing, machine learning Source: lab pages Currently hiring › “Applications are invited for a 2-3 year computational postdoctoral research position in the Schatz laboratory at Johns Hopkins University.” Source: lab positions page	Poster Wed Oct 21 2:30 pm Enabling Cloud Analysis across NIH Common Fund Projects with the CFDE Cloud Workspace Implementation Center (CWIC) Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: San Diego Supercomputer Center, Pennsylvania State University +1 more BioinformaticsComputational toolsGenomicsMulti-omics Poster Fri Oct 23 2:30 pm AnVIL: Secure Cloud Infrastructure for Collaborative Genomic Science at Scale Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: Broad Institute, Vanderbilt University GenomicsMulti-omicsComputational toolsElectronic health records
Timp Labtimplab.org Wet + dry lab~11 people Recent projects range from diagnosis of infectious disease using nanopore sequencing. We are creating new tools to explore genetics. 42 papers since 2024 › Uncalled4 improves nanopore DNA and RNA modification detection via fast and accurate signal alignment Nature Methods, 2025 Computational analysis of DNA methylation from long-read sequencing Nature Reviews Genetics, 2025 A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Nature Genetics, 2024 Source: OpenAlex author A5081156860 Funded by NIAID › NIAID, R21 · active “remnant samples from Johns Hopkins Hospital, funded by an R21 (NIAID)” Source: lab pages 16 platforms and techniques › Runs Oxford Nanopore platform, Nanopore Cas9 Targeted Sequencing (nCATS), MinION, Flongle flowcell, UNCALLED adaptive sequencing, Direct RNA sequencing, PacBio Iso-Seq, Illumina shotgun metagenomic sequencing Techniques Methylation calling, nanoNOMe, Cas9 targeted enrichment, Genome assembly, RNA structural profiling with SHAPE, Shotgun metagenomic sequencing, Solid-state nanopore force sensing, Clinical isolate genome characterization Source: lab pages Currently hiring › “Positions are available for postdocs, graduate students, and technicians.” Source: lab positions page	Poster Wed Oct 21 2:30 pm Targeted long-read single-cell DNA sequencing resolves tumor heterogeneity in breast cancer organoids Cancer 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 Omics Technologies ChromatinEpigeneticsMethodologyProteomics
Center for Pediatric Health Equity Researchhopkinsmedicine.org/all-childrens-hospital/academics/research/institute-for-clinical-and-translational-research/center-for-pediatric-health-equity-research ~8 people 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. 17 papers since 2024 › The Somatic Mosaicism across Human Tissues Network Nature, 2025 Oral microbiome composition is associated with depressive symptoms during pregnancy Brain Behavior & Immunity - Health, 2025 Maternal childhood adversity and infant epigenetic aging: Moderation by restless sleep during pregnancy Developmental Psychobiology, 2024 Source: OpenAlex author A5075872638 Funded by NIH, NICHD +2 more › NIH, dGTEx ELSI study · active “This NIH funded study will leverage a 360-degree stakeholder framework” NICHD, dGTEx ELSI study · five years “the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)” NIMH, dGTEx ELSI study · five years “the National Institute of Mental Health (NIMH)” +1 more on the lab page Source: lab pages 3 platforms and techniques › Techniques Interviews with family decision makers, Multilingual surveys, Focus groups Source: lab pages No openings posted	Symposium Wed Oct 21 9:20 am An integrated and cross-collaborative ethical, legal and social implications team model (ELSI 360⁰): Harnessing notes from two large-scale genomic studies involving deceased pediatric and adult donors Unique Considerations for Deceased Human Donor Tissue Biobanks to Support Innovative Genomic Studies Poster Thu Oct 22 4:15 pm Polygenic Risk Assessment and Epigenetic Profiling of Metabolic Health in Pediatric Obesity Complex Traits and Polygenic Disorders Collaborators: Johns Hopkins All Children's Hospital ObesityMethylationPolygenic risk scoreLong-read sequencing
Arking Labhopkinsmedicine.org/research/labs/t/the-arking-lab Wet + dry lab~10 people Develops GWAS methods using genetic, RNA-expression, DNA-methylation and protein-expression data, plus cell culture and zebrafish. Studies autism and cardiovascular genomics. 39 papers since 2024 › Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases Nature Genetics, 2025 Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury Nature Medicine, 2024 Quantifying constraint in the human mitochondrial genome Nature, 2024 Source: OpenAlex author A5051837355 Funded by Johns Hopkins University Claude D. Pepper Older Americans Independence Center, National Institute on Aging +3 more › Johns Hopkins University Claude D. Pepper Older Americans Independence Center “This work was supported by the Johns Hopkins University Claude D. Pepper Older Americans Independence Center” National Institute on Aging, P30-AG021334 “This work was supported by the Johns Hopkins University Claude D. Pepper Older Americans Independence Center, National Institute on Aging, P30-AG021334” National Heart, Lung, and Blood Institute, ARIC contracts “The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts” +2 more on the lab page Source: lab pages 14 platforms and techniques › Analyzes ChIP-Seq, ATAC-Seq, RNA-Seq, qPCR, Affymetrix arrays, Reduced representation bisulfite sequencing (RRBS), Multiplex TaqMan assay Techniques Genome-wide association studies (GWAS), Genetic fine-mapping, Polygenic risk scores, Cell culture, luciferase assays and knockout systems, Zebrafish models, Reduced Representation Bisulfite Sequencing, Electrocardiography Source: lab pages Currently hiring › “There are positions open for post-doctoral fellows in the lab.” Source: lab positions page	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 New Frontiers in Mitochondrial DNA Research MitochondriaMulti-omicsMetabolomicsProteomics
Cytogenetics/Cytogenomics Laboratorypathology.jhu.edu/cytogenetics Wet lab~28 people Runs cancer, prenatal and postnatal chromosome analysis, FISH assays and SNP microarrays. Provides clinical testing and customized cytogenetics services for institutional cancer researchers. 57 papers since 2024 › Clinically Sporadic Folliculin-mutated Renal Epithelial Neoplasms Represent a Mixture of True Somatic Folliculin-mutated and Occult Birt-Hogg-Dubé Syndrome-associated Cases The American Journal of Surgical Pathology, 2025 A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping Blood Cancer Journal, 2024 ERBB2/ ERBB3-mutated S100/ SOX10-positive unclassified high-grade uterine sarcoma: first detailed description of a novel entity Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin, 2024 Source: OpenAlex author A5069681845 13 platforms and techniques › Runs Cancer karyotype, FISH assays, FISH panel tests, SNP-based microarray analysis, AneuVysion FISH, DiGeorge FISH, FISH X/Y, FISH SRY Techniques Banded chromosome analysis, Fluorescence in situ hybridization, SNP-based microarray analysis, Cell culture, Breakage studies Source: lab pages No funding stated · No openings posted	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 Clone Wars: Mutability and Its Consequences Cancer cytogeneticsChromosomal abnormalitiesChromosomal structure/functionDiagnostics
Florea Labflorealab.org Dry lab~3 people 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. 11 papers since 2024 › Chronic activation of a key exercise signal transducer, CaMKII, drives skeletal muscle aging and sarcopenia bioRxiv (Cold Spring Harbor Laboratory), 2025 Regulation of human interferon signaling by transposon exonization Cell, 2024 Multimodal genome-wide survey of progressing and non-progressing breast ductal carcinoma in-situ Breast Cancer Research, 2024 Source: OpenAlex author A5065946017 Funded by NIH, NSF › NIH, R35GM156374 · active “Our work is currently being supported by NIH grant R35GM156374” NSF, DBI-2504115 · active “Our work is currently being supported by NIH grant R35GM156374 and NSF award DBI-2504115.” Source: lab pages 8 platforms and techniques › Analyzes RNA-seq, long RNA sequencing reads, Illumina RNA-seq, Illumina DNA-seq Techniques sequence-based deep learning, genome assembly, alternative splicing and RNA editing, splice graph-based transcript reconstruction Source: lab pages Currently hiring › “We have openings for doctoral and postdoctoral positions.” Source: lab positions page	Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Estimating the extent of Alu exonization in the human genome with a deep learning model Artificial Intelligence and Machine Learning Artificial intelligenceGenomic structureSplicing mechanismsTranscriptome
McCallion Laboratoryhopkinsmedicine.org/research/labs/a/andrew-mccallion-laboratory Wet + dry lab 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. 8 platforms and techniques › Works with Zebrafish reporter transgene system, ChIP-seq, ATAC-seq, Single-cell RNA-seq Techniques Functional genetic assays, Zebrafish reporter transgene assays, Mouse, zebrafish and cell-culture models, Stratified LD score regression Source: lab pages Currently hiring › “inquire about positions available within the lab, please contact Dr. McCallion” Source: lab positions page No funding stated	Poster Thu Oct 22 4:15 pm Implementation of safe-harbor CRISPRi and CRISPRa in zebrafish for the modulation of human disease gene candidates Laboratory Genetics and Genomics Gene regulationGenome editing/CRISPRTransgenic model
Newby Labnewbylab.jhmi.edu Wet lab~24 people Develops Cas9-derived base and prime editors for gene regulation and genetic disease. Tests editing in human cells and mice. 24 papers since 2024 › Engineered virus-like particles for transient delivery of prime editor ribonucleoprotein complexes in vivo Nature Biotechnology, 2024 Bone-marrow-homing lipid nanoparticles for genome editing in diseased and malignant haematopoietic stem cells Nature Nanotechnology, 2024 Safer and efficient base editing and prime editing via ribonucleoproteins delivered through optimized lipid-nanoparticle formulations Nature Biomedical Engineering, 2024 Source: OpenAlex author A5036125254 13 platforms and techniques › Runs Cas9 nuclease, Base editors, Prime editors, CRISPR-edited single cells, Dual AAVs, Lipid nanoparticles Techniques CRISPRi screens, Base editing, Ex vivo prime editing, In vivo gene editing, iPSC models, Human airway epithelial cells, Humanized mouse models Source: lab pages Currently hiring › “Applicants interested in conducting PhD training in our lab should apply to our primary program” Source: lab positions page No funding stated	Poster Thu Oct 22 4:15 pm Development of genome editing strategies for therapeutic correction of GNE Myopathy Genetic Therapies and Precision Medicine Genome editing/CRISPRMendelian disorderPrecision medicineTranslational studies and preclinical trials
T32 programhopkinsmedicine.org/geriatric-medicine-gerontology/education/t32/fellows ~6 people Trains investigators using long-read sequencing, multi-omics, UK Biobank and All of Us data. Research spans aging biology, skeletal muscle, mobility and dementia. 8 platforms and techniques › Analyzes Long-read sequencing Techniques Multi-omics, Cohort analysis, Epigenetic regulation modeling, Biomechanical modeling, Wearable sensors, Microphysiological systems, Tissue engineering Source: lab pages Currently hiring › “Applications to our program are accepted on a rolling basis for up to six slots.” Source: lab positions page No funding stated	Poster Fri Oct 23 2:30 pm Benchmarking Long-Read Sequencing Modalities to Resolve Mitochondrial Genetic Variation in Aging Disorders Omics Technologies BioinformaticsComputational toolsGenetic variationLong-read sequencing
Liu Groupdajiangliu.blog/people Works in clinical genetics.	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 MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases Collaborators: Pennsylvania State University, University of Tartu +2 more 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 Cancer Under Pressure: Genomics of Therapy Response and Resistance 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? Statistical Genetics and Genetic Epidemiology Polygenic risk scoreRisk assessmentStatistical geneticsMethodology
2 more presenters — research group not yet identified

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