Feb 17–20, 2025 | Beaver Run Conference Center, Breckenridge, CO, United States
Scientific Organizers:
Jeong Ho Lee, E. Alice Lee, and Peter Campbell

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Scientific Organizers: Jeong Ho Lee, E. Alice Lee, and Peter Campbell
Jeong Ho Lee
E. Alice Lee
Peter Campbell
***Meeting program subject to change.
Available Formats: = In Person = On DemandMonday, February 17, 2025
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Tuesday, February 18, 2025
Session Chair
Somatic Mosaicism in Human Brain Development and Aging
Session Chair
Machine Learning Analysis of Deep Whole-Genome Sequencing Data from a Large Neuropsychiatric Cohort Reveals Regular Presence of Somatic, Mosaic LINE-1 Insertions in Human Brain
Genomic and Epigenetic Mosaicism in Human Early Embryogenesis
Role of Somatic Mutations in Aging and Disease
Mosaicism in the Development and Aging of Hematopoietic Organs
Short Talk: Somatic Methylation Mosaicism in Ageing And Disease
Short Talk: Widespread Genetically Aberrant Neurons During Human Neurodevelopment Revealed Through Single Nuclei Sequencing
Session Chair
Introduction to the Somatic Mosaicism Across Human Tissues (SMaHT) Network
SMaHT Benchmarking Design
Data Analysis Center Of The Somatic Mosaicism Across Human Tissues (Smaht) Network
Telomere-To-Telomere Mapping Of Cancer Somatic Variants And Their Functional Impact On Chromatin
Accurate Characterization Of Mosaic Small Variants In Human Genome
Enhanced HAT-Seq Reveals Developmental Somatic L1 Insertion Clones in Ataxia-Telangiectasia Brains
Duplex-Multiome Discovers Somatic Mutation Patterns And Impact Across Cell Types
Session Chair
Retrotransposon as a Non-Canonical Mechanism Driving Somatic Mosaicism
Modeling Somatic Mosaicism in iPSCs
Modeling Somatic Mosaicism in Brain Organoids
Short Talk: Somatic Slc35a2 Mosaicism Drives Novel Glycoprotein Production Causing Intractable Epilepsy With Oligodendrocyte Dysfunction
Short Talk: DNMT3A Loss Dysregulates Hematoendothelial Differentiation in The Mosaic Context
Wednesday, February 19, 2025
Session Chair
Session Chair
Advancing the Fidelity and Speed of Somatic Mutation Detection
Benchmarking Tools to Detect Low-Level somatic Mosaicism
A Pan-Tissue Survey of Mosaic Chromosomal Alterations
Short Talk: Investigating Clonal Haematopoiesis Using A Novel Single Cell Multi-Omic Approach
Short Talk: Accelerating Discovery Of Chronic Disease-Associated Driver Genes By Detecting Somatic Mutations From Bulk Rna-Seq Data
Short Talk: Linking Single-Cell Transcriptomic And Genomic Changes In The Aging Human Brain
Short Talk: Advanced Bioinformatics Tools For Somatic Mosaicism Analysis And Visualization
Associate Professor & Attending Physician
Principal Scientist
Associate Professor
Session Chair
Somatic Mosaicism in Premalignant State and Cancer Evolution
Clonal Selection in Normal Tissues and its Relation to Cancer Risk
Clonal Hematopoiesis Impacting Cancer Evolution and Therapy
Short Talk: The Somatic Mutation Landscape Of Normal Gastric Epithelium
Short Talk: Tracking Kidney Cancer Initiation Via Somatic Mutation Analysis Of Normal Kidney Cells
Thursday, February 20, 2025
Session Chair
Session Chair
Somatic Mosaicism in Epileptogenesis
Oncogenic Somatic Mosaicism in Neurodegenerative Disorders
Somatic Mosaicism and Clonal Selection in Metabolic Liver Disease
Somatic Mosaicism in Immune Cells and Autoimmune Disease
Short Talk: Alzheimer’s Disease Microglia Exhibit An Enrichment Of Somatic Cancer Driver Mutations, Correlating With Disease-Associated Inflammatory States
Short Talk: Dnmt3a R882 Mutation Alters Clonal And Myeloid Differentiation Dynamics Of Human Haematopoietic Stem Cells
Session Chair
Session Chair
Elucidating The Human Brain-Specific Response To Dna Breaks: Monitoring Rna-Templated Dna Repair In Human Neurons
Hippocampal Somatic Variants Activating Ras-Mapk Signaling Contribute To Drug-Resistant Focal Epilepsy Through Clonal Selection
The Origin, Impact, And Utility Of Mosaicism Analysis In Sperm
Single-Nucleus Multi-Omic Profiling Of Polyploid Heart Nuclei Identifies Fusion-Derived Cardiomyocytes In Human Heart
Low-Level Developmental Mosaicism Of Driver Genes Underpin Human Meningioma
Identifying Regulators Of Endogenous Mutagenesis In Vivo
Genetic Interactions Between X-Linked Variants
Idh-Mutant Gliomas Arise From Glial Progenitor Cells Harboring The Initial Driver Mutation
Session Chair
Genetic Diagnosis and Targeted Therapy in Intractable Focal Epilepsy with Somatic Mosaicism
Mechanistic Advances in RNAi Therapeutics Platform, and Implications for Diseases with Somatic Mosaicism
Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS) with Mosaic Activation of Gsα Protein
Short Talk: Mutation Timing And Clonal Structure Complement Fitness In Determining The Clinical Progression Of Clonal Haematopoiesis
Friday, February 21, 2025
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