The University of Texas Southwestern Medical Center at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

The University of Texas Southwestern Medical Center brings 7 presentations from 4 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, cancer, population genetics, computational genomics and therapeutics at the Montréal meeting. The DeBerardinis Lab traces pathogenic TCF4 repeat expansions, the Laboratory of functional and regulatory genomics maps transcription-factor function with CRISPRi, and the Seplyarskiy Lab studies DNA lesions linked to tumor-initiating cells.

Organization	ASHG 2026 Attendance
The University of Texas Southwestern Medical Center Dallas, Texas	3 PIs · 1 Postdoc
DeBerardinis Labcri.utsw.edu/… Wet lab~33 people Uses metabolomics, metabolic flux analysis, isotope tracing and genome/exome sequencing in cancer and inborn-error models. Studies tumor metabolism, rare metabolic disease and development. 196 papers since 2024 › De novo and salvage purine synthesis pathways across tissues and tumors Cell, 2024 Severely polarized extracellular acidity around tumour cells Nature Biomedical Engineering, 2024 Mitochondrial complex I promotes kidney cancer metastasis Nature, 2024 Source: OpenAlex author A5013924501 Funded by National Cancer Institute, Howard Hughes Medical Institute › Howard Hughes Medical Institute, Investigator · 2018 “he was named an Investigator of the Howard Hughes Medical Institute in 2018” National Cancer Institute, Outstanding Investigator Award · 2017 and 2023 “DeBerardinis received Outstanding Investigator Awards from the National Cancer Institute in 2017 and 2023” Source: lab pages 8 platforms and techniques › Works with 13C-glucose isotope tracing, Genome/exome sequencing, Metabolomics Techniques Metabolic flux analysis, Intra-operative isotope tracing, Cancer animal models, Functional analyses in cells or mice, In utero metabolic imaging Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm Part of Evolutionary and Population Genetics Poster Friday Session Tracing founder haplotypes and expansion history in pathogenic TCF4 short tandem repeat alleles Exhibit & Poster Hall · Board 7038F Genetic epidemiologyHaplotypeLinkage disequilibriumTriplet and other repeats
Laboratory of functional and regulatory genomicshonlab.org Wet + dry lab~10 people Develops single-cell CRISPR, feature-barcoding and genome-editing approaches for gene regulation and epigenetics. Uses them to engineer cell states and study disease and regenerative medicine. 16 papers since 2024 › Deciphering the impact of genomic variation on function Nature, 2024 Single-cell and spatial transcriptomics identify COL6A3 as a prognostic biomarker in undifferentiated pleomorphic sarcoma Molecular Cancer, 2024 Towards functional maps of non-coding variants in cancer Frontiers in Genome Editing, 2024 Source: OpenAlex author A5073405615 Funded by National Human Genome Research Institute, National Institute of General Medical Sciences +7 more › National Human Genome Research Institute, Multiscale functional characterization of genomic variation in human developmental disorders (UM1) · 2021-2026 “Multiscale functional characterization of genomic variation in human developmental disorders (UM1, 2021-2026)” Department of Defense, Interrogating the Functional Impact of Regulatory Sequences in Congenital Heart Disease · active “Interrogating the Functional Impact of Regulatory Sequences in Congenital Heart Disease” Burroughs Wellcome Fund, Defining the spatio-temporal drivers of cervical remodeling in pregnancy and parturition · active “Defining the spatio-temporal drivers of cervical remodeling in pregnancy and parturition” +6 more on the lab page Source: lab pages 12 platforms and techniques › Analyzes single-cell RNA-seq, single-cell CRISPR screens, Mosaic-Seq, Reprogram-Seq, feature barcoding Techniques single-cell genomics, genome editing, statistical and machine learning, mammalian gene regulation, single-cell enhancer perturbation assays, combinatorial perturbation, human pluripotent stem cells Source: lab pages Currently hiring › “The Hon lab @ UT Southwestern is hiring!” Source: lab positions page	Symposium Fri Oct 23 8:50 am Part of The IGVF Consortium: Deciphering the Impact of Genomic Variation on Genome Function Molecular networks: A shared CRISPRi resource for mapping transcription factor function across human cell lineages Room 517BC/Level 5
Seplyarskiy Lablabs.utsouthwestern.edu/seplyarskiy-lab Dry lab~3 people Uses large-scale sequencing data and population-genetic modeling. Studies mutagenesis, selection, clonal evolution, cancer and rare disease genetics. 13 papers since 2024 › Hotspots of human mutation point to clonal expansions in spermatogonia Nature, 2025 Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies medRxiv, 2025 Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells European Journal of Human Genetics, 2024 Source: OpenAlex author A5087864045 4 platforms and techniques › Techniques Population-genetic modeling, Population-genetic inference, Allele-frequency analysis, De novo mutation analysis Source: lab pages Currently hiring › “We are recruiting rotation Ph.D. students! If you are interested contact us!” Source: lab positions page No funding stated	Symposium Wed Oct 21 8:36 am Part of Human Mutational Processes Underlying Genomic Signatures, Cancer, and Evolution Segregating DNA lesions point to high selective advantage of tumor initiating cells Room 510/Level 5
Makhnoon Lab Works in clinical genetics.	Poster Wed Oct 21 2:30 pm Part of Health Services Research and Implementation Science Poster Wednesday Session Improving Trust Through Transparency: Communicating Differential VUS Rates During Genetic Counseling Exhibit & Poster Hall · Board 8032W Clinical geneticsEthical, legal, and social implicationsGenetic testing
2 more presenters — research group not yet identified

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