ASHG 2026 · Tier 1 Academic

Baylor College of Medicine at ASHG 2026

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

Houston, Texas

Baylor College of Medicine at ASHG 2026 in Montréal: 53 presentations (41 posters, 5 featured symposia, 5 platform talks); 20 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
Baylor College of Medicine Houston, Texas	15 PhD Students · 9 Faculty · 6 PIs · 5 Staff Scientists
Human Genome Sequencing Centerhgsc.bcm.edu Wet + dry lab~42 people Generates and analyzes WGS, WES, RNA-Seq capture and targeted NGS panels. Supports rare disease, population genomics, cancer and functional genomics. 63 papers since 2024 › The Somatic Mosaicism across Human Tissues Network Nature, 2025 Genomic data in the All of Us Research Program Nature, 2024 Empowering personalized pharmacogenomics with generative AI solutions Journal of the American Medical Informatics Association, 2024 Source: OpenAlex author A5059626751 Funded by National Human Genome Research Institute (NHGRI), Chan Zuckerberg Initiative › National Human Genome Research Institute (NHGRI), Population Genomic Screening Network · five-year “The NIH's National Human Genome Research Institute has funded the Population Genomic Screening Network, a five-year, roughly $46.5 million initiative” Chan Zuckerberg Initiative, TMC-CZI Project · two-year Philanthropic science funding from the Chan Zuckerberg Initiative. “This transformational project is made possible by a two-year grant from the Chan Zuckerberg Initiative” Source: lab pages 12 platforms and techniques › Works with WGS, WES, RNA-Seq capture, Targeted NGS panels, Sanger, MLPA, ChIP-seq, ATAC-seq Techniques De novo assembly, Variant annotation and prioritization, Structural variant analysis, Functional genetic studies in animal models and human cells Source: lab pages No openings posted	Talk Wed Oct 21 1:51 pm Clinically integrated genomic screening yields reportable findings in >90% of individuals Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery Collaborators: Columbia University Irving Medical Center Electronic health recordsGenetic counselingGenetic testingPharmacogenomics Poster Wed Oct 21 2:30 pm Toward a unified large language model framework for literature-based ACMG/AMP evidence extraction Artificial Intelligence and Machine Learning Artificial intelligenceLaboratory genetics and genomicsVariant interpretationPrecision medicine Poster Wed Oct 21 2:30 pm Clinical implementation of urine global metabolomics for detection of inborn errors of metabolism Omics Technologies Collaborators: Baylor Genetics Biochemical pathologyClinical testingGenetic testingMetabolic disorder Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Clinically integrated genomic screening yields reportable findings in >90% of individuals Health Services Research and Implementation Science Collaborators: Columbia University Irving Medical Center Electronic health recordsGenetic counselingGenetic testingPharmacogenomics Poster Wed Oct 21 2:30 pm Cross-tissue SBS18 enrichment in a monoallelic MUTYH p.Gly396Asp carrier from the Somatic Mosaicism across Human Tissues (SMaHT) cohort Cancer Somatic variantsMosaicismCancer syndromesRisk assessment Moderator Thu Oct 22 1:30 pm Elucidating Structural Variation in Human Health and Disease Poster Thu Oct 22 4:15 pm A Multi-Agent Framework for High-Throughput Multiomics at a Clinical Genome Center Artificial Intelligence and Machine Learning Artificial intelligenceBioinformaticsClinical testingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm Multi-Omics Profiling of a Cohort of Xia-Gibbs Syndrome Individuals Omics Technologies MethylationMulti-omicsNeurodevelopmentalProteomics Poster Thu Oct 22 4:15 pm Multi-caller whole-genome CNV analysis of severe schizophrenia identifies pathogenic variants and recurrent gene disruptions in UBXN7 and TENM2 Complex Traits and Polygenic Disorders Copy number/structural variationPsychiatric geneticsLaboratory genetics and genomicsVariant calling Symposium Fri Oct 23 8:15 am Introduction AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes Symposium Fri Oct 23 9:40 am Closing remarks AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes Talk Fri Oct 23 2:00 pm Mission Aware Multi Omics Profiling of Early Human Adaptation to Spaceflight Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease Collaborators: University of Central Florida, Poznan University of Medical Sciences +1 more Multi-omicsProteomicsSingle-cellRNA-seq Poster Fri Oct 23 2:30 pm Breaking the diagnostic ceiling: genetic findings and AI-enabled discovery in the GREGoR Consortium Artificial Intelligence and Machine Learning Artificial intelligenceExome/genome sequencingIdentification of disease genesMendelian disorder
Atkinson Labegatkinsonlab.com Dry lab~10 people Analyzes GWAS, gnomAD, UK Biobank and All of Us Researcher Workbench data with statistical genomics methods. Studies admixed populations, psychiatric traits and human evolutionary history. 61 papers since 2024 › Effects of intermittent senolytic therapy on bone metabolism in postmenopausal women: a phase 2 randomized controlled trial Nature Medicine, 2024 IL-23R is a senescence-linked circulating and tissue biomarker of aging Nature Aging, 2024 Biomarkers of cellular senescence and major health outcomes in older adults GeroScience, 2024 Source: OpenAlex author A5038589760 Funded by National Library of Medicine, NIH +1 more › NIH, All of Us Research Scholar · 2023–2024 “selected as an NIH All of Us Research Scholar for the 2023–2024 cohort” NIH, Blueprint and BRAIN Initiative DSPAN Scholar · 2024 “in 2024, as an NIH Blueprint and BRAIN Initiative DSPAN Scholar” National Library of Medicine, Training Program in Biomedical Informatics and Data Science, T15LM007093 “she was a Predoctoral Fellow of the National Library of Medicine (NLM) Training Program in Biomedical Informatics and Data Science (T15LM007093).” Source: lab pages 14 platforms and techniques › Analyzes GWAS, gnomAD, UK Biobank, All of Us Researcher Workbench, Tractor workflow, Admix-kit Techniques Local ancestry inference, Genome-wide association studies, Polygenic risk prediction, Rare variant burden testing, eQTL analysis, Epistasis and genetic interaction analysis, Genotype-by-age interaction analysis, Evolutionary statistics Source: lab pages No openings posted	Moderator Wed Oct 21 1:30 pm Advances in Population Genetics, Genetic Epidemiology, and Omics Moderator Wed Oct 21 1:30 pm Clinical Genetics Across the Lifespan: From Gene Discovery to Prenatal, Developmental, and Pharmacogenomic Insights Poster Wed Oct 21 2:30 pm MosaicSim: A Novel Simulator Revealing the Impact of Coverage, Allele Frequency, and Sequencing Platform on Mosaic Variant Detection Molecular Effects of Genetic Variation Collaborators: Weill Cornell Medicine, University of North Carolina at Charlotte +1 more Genetic variationVariant callingSomatic variantsBioinformatics Poster Thu Oct 22 4:15 pm Leveraging LD to Improve Lp(a) Genetic Prediction Across Populations Complex Traits and Polygenic Disorders Collaborators: Rice University Cardiovascular systemLinkage disequilibriumPolygenic risk scorePopulation genetics Poster Fri Oct 23 2:30 pm The landscape of deleterious genetic interactions in the human genome Evolutionary and Population Genetics Collaborators: University of California, Los Angeles, Texas Children's Hospital Rare variantsPopulation geneticsNatural selectionEvolutionary genetics Poster Fri Oct 23 2:30 pm Ancestry-specific genetic architecture across 3,500 phenotypes reveals pervasive marginal effect size heterogeneity Statistical Genetics and Genetic Epidemiology Collaborators: Texas Children's Hospital Genome-wide association studyPhenome-wide associationPopulation structureStatistical genetics Poster Fri Oct 23 2:30 pm Improving gene discovery with rare variants in admixed American populations Statistical Genetics and Genetic Epidemiology Collaborators: Broad Institute, Johns Hopkins University Complex traitsMethodologyPopulation geneticsRare variants Moderator Sat Oct 24 9:45 am Genomic Medicine in Underrepresented and Diverse Populations
Bioinformatics Research Laboratorygenboree.org/site/team Dry lab~16 people Analyzes small and long RNA-seq, epigenomic and whole-exome sequencing data with Genboree Workbench tools. Covers ClinGen variant interpretation and ExRNA Atlas resources. 15 papers since 2024 › Mapping MAVE data for use in human genomics applications Genome biology, 2025 The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation Genetics in Medicine, 2024 Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms Annual Review of Biomedical Data Science, 2024 Source: OpenAlex author A5089918245 13 platforms and techniques › Analyzes small RNA-seq, long RNA-seq, whole-exome next-generation sequencing, ChIP-seq, MeDIP, RNA-seq, 16S rRNA sequencing Techniques ACMG/AMP variant pathogenicity interpretation, k-means clustering, ChromHMM chromatin-state modeling, motif discovery, DESeq2 differential analysis, circular RNA detection Source: lab pages No funding stated · No openings posted	Poster Thu Oct 22 4:15 pm Information-Theoretic Prioritization of Pathogenic Noncoding Variants Reveals Subtype-Specific Regulatory Mechanisms in Congenital Heart Disease Molecular Effects of Genetic Variation Collaborators: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai Genetic variationBioinformaticsEpigeneticsStatistical genetics Poster Thu Oct 22 4:15 pm A Computable Framework for Sequence Variant Classification v4 Criteria Specifications within the ClinGen CSpec Registry Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: Stanford University, Mayo Clinic +3 more Clinical geneticsComputational toolsDatabasesVariant interpretation Poster Thu Oct 22 4:15 pm A Scalable Framework for Defining Structural Variants in the ClinGen Allele Registry Genetic, Genomic, and Epigenomic Resources and Databases BioinformaticsComputational toolsCopy number/structural variationDatabases
Liu Labliuzlab.org Dry lab~29 people Develops AI models for genomics, scRNA-seq, bulk RNA-seq and NMR data. Applications include rare-disease diagnosis and autism-model validation with Texas Children’s Hospital and SPARK. 61 papers since 2024 › AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders NEJM AI, 2024 The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing The American Journal of Human Genetics, 2024 Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis Neuron, 2024 Source: OpenAlex author A5004947640 Funded by NIH, Cancer Prevention and Research Institute of Texas +6 more › Cancer Prevention and Research Institute of Texas, Cancer Prevention and Research Institute of Texas Grant · 9/1/2024 - 8/31/2029 “Cancer Prevention and Research Institute of Texas Grant RP240131 9/1/2024 - 8/31/2029” NIH, Autism Data Science Initiative (ADSI) · 9/29/2025 - 9/28/2028 “We recently secured support through the NIH Autism Data Science Initiative (ADSI) for Validate ASD” CPRIT, Individual Investigator Research Award · 9/1/2017 - 8/31/2022 “CPRIT Individual Investigator Research Award RP170387 9/1/2017 - 8/31/2022” +5 more on the lab page Source: lab pages 12 platforms and techniques › Analyzes scRNA-seq, bulk RNA-seq, single-cell multi-omics, NMR data Techniques machine learning, network-aware modeling, multi-omics integration, single-cell analysis, causal reasoning, cross-cohort benchmarking, code-blinded replication, Drosophila Source: lab pages Currently hiring › “We are always looking for motivated students to join our team.” Source: lab positions page	Poster Thu Oct 22 4:15 pm Vision-based modeling of spatial genomic evidence enables interpretable copy number variant pathogenicity prediction Artificial Intelligence and Machine Learning Collaborators: Texas Children's Hospital, Yale University Computational tools Poster Thu Oct 22 4:15 pm Matched sibling analysis reveals oligogenic burden of rare damaging variants in autism spectrum disorder Complex Traits and Polygenic Disorders AutismBioinformaticsExome/genome sequencingRare variants Symposium Fri Oct 23 8:35 am Agentic reasoning across genomes, RNA, and phenotype for rare disease diagnosis AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes
Sedlazeck Labfritzsedlazeck.github.io Dry lab~12 people Develops algorithms for structural-variant analysis of PacBio and Oxford Nanopore long reads, methylation and large-scale genomics. Applies them to disease, evolution and clinical genomics. 89 papers since 2024 › Detection of mosaic and population-level structural variants with Sniffles2 Nature Biotechnology, 2024 Characterization and visualization of tandem repeats at genome scale Nature Biotechnology, 2024 Comprehensive genome analysis and variant detection at scale using DRAGEN Nature Biotechnology, 2024 Source: OpenAlex author A5037440162 13 platforms and techniques › Analyzes PacBio, Oxford Nanopore Technologies MinION, DRAGEN, Single-cell whole-genome sequencing, Long-read RNA sequencing Techniques Structural variant detection, Tandem repeat detection, Phasing, Methylation calling, Variant calling, Mapping and assembly, CRISPR-Cas9, Machine learning Source: lab pages Currently hiring › “Position: Computational Post-Doctoral Researcher” Source: lab positions page No funding stated	Symposium Wed Oct 21 8:15 am Introduction The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine Symposium Wed Oct 21 8:50 am Genetic and epigenetic landscape of self-identified Hispanics in All of Us The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine Poster Fri Oct 23 2:30 pm A multi-tissue atlas of mosaic structural variation, tandem repeat instability, and DNA methylation across human tissues Evolutionary and Population Genetics Collaborators: Harvard University, University of Washington BioinformaticsEpigeneticsGenetic variationGenomics
BCM-GREGoRgregorconsortium.org Wet + dry lab Generates exome/genome data on Illumina NovaSeq 6000 at Baylor HGSC and analyzes genomic data. Uses functional phenotyping to advance precision molecular diagnosis and gene-function research. Funded by National Human Genome Research Institute (NHGRI) › National Human Genome Research Institute (NHGRI), U01HG011758 · active “The GREGoR Consortium is funded by the National Human Genome Research Institute (NHGRI). Award U01HG011758.” Source: lab pages 11 platforms and techniques › Works with Illumina NovaSeq 6000, Custom HSGC exome capture reagent, custom TWIST, KAPA Hyper PCR-free reagents, Fluidigm SNPtrace, HGSC HgV analysis pipeline, Cassandra annotation tools Techniques Functional phenotyping, Exome sequencing, Genome sequencing, Variant calling, SNP genotyping for sample QC Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm TTC36 and autosomal recessive tyrosinemia: evidence from human genetics and functional validation Mendelian Phenotypes Collaborators: Columbia University Irving Medical Center, Texas Children's Hospital Identification of disease genesMendelian disorderNewborn screeningMetabolic disorder Talk Fri Oct 23 2:00 pm Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Syndromic Neurodevelopmental Disorder with Skeletal Anomalies Decoding Malformation Syndromes: New Disease Genes Across Organ Systems Collaborators: Texas Children's Hospital, University of Cologne +14 more Candidate geneCharacterization of syndromesIdentification of disease genesMalformation in“our abstract on a novel neurodevelopmental-skeletal spliceosomopathy was selected for a platform presentation at ASHG 2026. Hope to see you in Montreal!”
Dhindsa Labdhindsalab.com/people Wet + dry lab~16 people Uses genome sequencing, single-cell RNA-sequencing, chromatin profiling, human iPSC-derived neurons and UK Biobank data. Studies genetic causes and mechanisms of neurological and other human diseases. 24 papers since 2024 › Whole-genome sequencing of 490,640 UK Biobank participants Nature, 2025 Disease prediction with multi-omics and biomarkers empowers case–control genetic discoveries in the UK Biobank Nature Genetics, 2024 Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences Nature Genetics, 2024 Source: OpenAlex author A5049059460 Funded by American Brain Foundation, National Institutes of Health +1 more › American Brain Foundation · 2026 “Our lab was awarded a $2,000,000 grant from the American Brain Foundation” National Institutes of Health, Director’s Early Independence Award (DP5) · 2023; up to five years “8/2023 — Lab receives a 2023 NIH Director’s Early Independence Award (DP5)” Hevolution and Rosenkranz foundations · August 2023; over two years “This round of funding was launched in August of 2023 with Hevolution and Rosenkranz foundations to focus on high-risk high-reward studies in aging science.” Source: lab pages 13 platforms and techniques › Works with Genome sequencing, CRISPR-based functional genomics platform, Single-cell RNA-sequencing, Chromatin profiling, Electrophysiology assays, Transcriptomics, Metabolomics, Proteomics Techniques Human iPSC-derived neurons, Mouse and patient-derived iPSC models, Machine learning and AI, Statistical genetics, Phenome-wide association studies Source: lab pages Currently hiring › “We are currently recruiting at all levels.” Source: lab positions page	Talk Thu Oct 22 8:15 am A large-scale Perturb-seq map of haploinsufficient neurodevelopmental disorder genes in iPSC-derived neurons reveal convergence and divergence in transcriptional programs Chromatin in Motion: Epigenetic Control of Brain Development and Disease Collaborators: Neurological Research Institute Genome editing/CRISPRLaboratory genetics and genomicsNeurodevelopmentalChromatin Poster Thu Oct 22 4:15 pm Establishment of a scalable automated pediatric biobank at Texas Children’s Hospital to advance equitable genomic research Genetic, Genomic, and Epigenomic Resources and Databases Large-scale biobanksGenetic variationGenomicsPrecision medicine
Wangler Labbcm.edu/research/faculty-labs/michael-wangler-lab/members Wet lab~7 people We study rare childhood diseases using medical genetics, genomics, and Drosophila models. We use Drosophila models for diagnostic paradigms. 54 papers since 2024 › AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders NEJM AI, 2024 Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 The American Journal of Human Genetics, 2024 Source: OpenAlex author A5091323267 6 platforms and techniques › Techniques Drosophila melanogaster models, Clinical studies in rare disease, Genetic screening, Metabolomic studies, Exome sequencing, Functional validation Source: lab pages No funding stated · No openings posted	Poster Fri Oct 23 2:30 pm The Model Organisms Screening Center’s (MOSC) contributions to solving Undiagnosed Disease Network (UDN) cases Molecular Effects of Genetic Variation Collaborators: Texas Children's Hospital Brain/nervous systemCharacterization of disordersClinical geneticsIdentification of disease genes Poster Fri Oct 23 2:30 pm NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila Molecular Effects of Genetic Variation Collaborators: University of Manitoba AutismGenetic variationInheritance patternsModel organisms
Zong Labbcm.edu/research/faculty-labs/chenghang-zong-lab/lab-members Wet lab~3 people Develops LCS-WGA, MATQ-seq and MATQ-drop for single-cell genomic and transcriptomic profiling. Uses genetically engineered mice to study pancreatic tumorigenesis and early cancer events. 16 papers since 2024 › The Somatic Mosaicism across Human Tissues Network Nature, 2025 Expression of Atoh1 , Gfi1 , and Pou4f3 in the mature cochlea reprograms nonsensory cells into hair cells Proceedings of the National Academy of Sciences, 2024 Single-cell total-RNA profiling unveils regulatory hubs of transcription factors Nature Communications, 2024 Source: OpenAlex author A5083291814 Funded by NIH › NIH, Director’s New Innovator Award · 2014-09 “2014-09: Zong lab awarded NIH Director’s New Innovator Award for cancer genomics.” Source: lab pages 7 platforms and techniques › Runs LCS-WGA, MATQ-seq, MATQ-drop, Damagenome profiling Techniques Genetically engineered mice models, Single-cell whole-genome amplification, Pancreatic intraepithelial neoplasia transcriptome profiling Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm SigFormer: an Attention-Based Framework for Robust Single-Sample Mutational Signature Decomposition Omics Technologies BioinformaticsDeep learningGenetic variationSomatic variants Poster Fri Oct 23 2:30 pm Genome-wide High-Precision Duplex-seq Enables the Identification of Tissue-Specific Somatic Mutational Signatures in Normal Tissues Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: Harvard University Somatic variantsVariant callingDatabasesArtificial intelligence
Center for Precision Medicine Modelsbcm.edu/research/research-centers/center-for-precision-medicine-models Wet + dry lab~17 people Produces and phenotypes Drosophila and mouse models, and analyzes exome, genome and human-model multi-omics data. Supports rare-disease diagnosis with clinicians and the Undiagnosed Diseases Network. 31 papers since 2024 › A comprehensive atlas of AAV tropism in the mouse Molecular Therapy, 2025 A GREB1-steroid receptor feedforward mechanism governs differential GREB1 action in endometrial function and endometriosis Nature Communications, 2024 Improving laboratory animal genetic reporting: LAG-R guidelines Nature Communications, 2024 Source: OpenAlex author A5026263256 Funded by NIH Office of Research Infrastructure Programs › NIH Office of Research Infrastructure Programs, U54 OD030165 · active “is funded by the NIH Office of Research Infrastructure Programs” Source: lab pages 13 platforms and techniques › Analyzes exome analysis, genome analysis, transcriptomics analysis, human-model multi-omics data, rhesus macaque whole-genome and exome sequences Techniques CRISPR/SpCas9 guide RNA design, genome modification, phenotyping workflows, Drosophila melanogaster, Mus musculus, microinjection, prime editing, recombinase mediated cassette exchange Source: lab pages No openings posted	Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Precision Medicine Models for Rare and Undiagnosed Mendelian Disorders Mendelian Phenotypes Collaborators: Texas Children's Hospital Genome editing/CRISPRIdentification of disease genesMendelian disorderModel organisms
Diagnostic Laboratoriesbcm.edu/departments/molecular-and-human-genetics/our-team/diagnostic-laboratory-faculty Wet lab~29 people Runs clinical whole-exome, whole-genome and transcriptome sequencing, chromosomal microarray and beadchip assays. Supports rare-disease diagnosis through Baylor Genetics and the Undiagnosed Diseases Network. Funded by NHGRI, NHGRI › NHGRI, R35 HG011311 — Characterizing disease-causing variants using personal genomes with large recurrent deletions · 07/01/2021 - 06/30/2026 “Characterizing disease-causing variants using personal genomes with large recurrent deletions #R35 HG011311 (07/01/2021 - 06/30/2026) NHGRI” NHGRI, U01 HG007942 — Clinical Sequencing Core Facility for the Undiagnosed Diseases Network · 09/22/2014 - 06/30/2022 “Clinical Sequencing Core Facility for the Undiagnosed Diseases Network #U01 HG007942 (09/22/2014 - 06/30/2022) NHGRI” Source: lab pages 8 platforms and techniques › Runs Clinical whole-exome sequencing, Clinical whole-genome sequencing, Clinical transcriptome sequencing, Chromosomal microarray analysis, Highly multiplexed beadchip assay Techniques Patient-derived cell transdifferentiation, Clinical exome reanalysis, Antisense oligonucleotide screening Source: lab pages Currently hiring › “We generally have positions available every year.” Source: lab positions page	Poster Fri Oct 23 2:30 pm Shared Germline and Clinical Signatures Between Neurodevelopmental Disorders and Pediatric Malignancies Cancer Collaborators: Children's Hospital of Philadelphia CancerExome/genome sequencingGenetic variationMulti-omics
Epidemiology and Population Sciences Programtexaschildrens.org/tcri/our-research/areas-research/epidemiology Dry lab~21 people Studies childhood cancer using blood and saliva samples plus epidemiological, clinical and patient-reported data. Works through ACCESS, SALUD and REDIAL on prevention, outcomes and disparities. 38 papers since 2024 › Metabolic syndrome in childhood, adolescent, and young adult cancer survivors: recommendations for surveillance from the International Late Effects of Childhood Cancer Guideline Harmonization Group European Journal of Endocrinology, 2025 Episodes of acute methotrexate‐related neurotoxicity linked to compromised long‐term neurocognitive function Pediatric Blood & Cancer, 2024 Toxicity profile of high‐dose methotrexate in young children with central nervous system tumors Pediatric Blood & Cancer, 2024 Source: OpenAlex author A5045344677 Funded by National Cancer Institute, National Institutes of Health, Cancer Prevention and Research Institute of Texas +1 more › National Cancer Institute, National Institutes of Health, UG3CA260607 and UH3CA260607 · active “This study is supported by the National Cancer Institute of the National Institutes of Health under award numbers UG3CA260607 and UH3CA260607.” Cancer Prevention and Research Institute of Texas, RP160771 and RP210064 · active “This study is supported by the Cancer Prevention and Research Institute of Texas under award numbers RP160771, RP210064.” National Cancer Institute, National Institutes of Health, Specialized Program of Research Excellence (SPORE); P20CA262733 and U54CA302464 · active “REDIAL supported by the National Cancer Institute of the National Institutes of Health under award numbers P20CA262733 and U54CA302464.” Source: lab pages 6 platforms and techniques › Techniques DNA analyses, Genome-wide association studies (GWAS), Case-parent trio studies, Bioinformatics, genomics and epigenomics, Targeted and non-targeted metabolomics, Methylation risk-score biomarkers Source: lab pages No openings posted	Poster Wed Oct 21 2:30 pm Genome-wide bone marrow DNA methylation at diagnosis and end of induction measurable residual disease in pediatric acute lymphoblastic leukemia Epigenomics Collaborators: Texas Children's Hospital, Emory University +1 more CancerEpidemiologyEpigenome-wide association studiesMethylation
Erwin Laberwinlab.org Wet + dry lab~16 people Studies repetitive DNA with long read sequencing data and computational workflows. Develops experimental and bioinformatic tools to characterize variants in human disease. 5 papers since 2024 › Whole-genome variant detection in long-read sequencing data from ultralow input patient samples Genome Research, 2026 DNA-FISH Metaphase Spreads to Distinguish Extrachromosomal DNA from Homogeneously Staining Regions in Human Cancer Cell Lines Journal of Visualized Experiments, 2026 Cell-type-resolved somatic variant discovery from bulk long-read sequencing medRxiv, 2026 Source: OpenAlex author A5068191084 8 platforms and techniques › Works with Long-read sequencing, DNA-FISH metaphase spreads, COSMIC Techniques Computational workflows, RepeatMasker, Single-molecule methods, DNA-binding polyamides, Synthetic transcription elongation factors Source: lab pages Currently hiring › “We are recruiting researchers who recently graduated, or are about to, for an immersive two-year research experience” Source: lab positions page No funding stated	Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Pervasive Tandem Repeat Heterogeneity in the Male Germline Evolutionary and Population Genetics Somatic variantsReproductive geneticsMosaicismLong-read sequencing
Laboratory Genetics and Genomics Fellowsbcm.edu/departments/molecular-and-human-genetics/education/clinical-laboratory-fellowships/fellows-and-alumni ~4 people Trains Laboratory Genetics and Genomics fellows at Baylor Genetics in diagnostic testing. Covers constitutional and somatic testing, whole-exome sequencing and SNP-array comparative genomic hybridization. 4 platforms and techniques › Runs whole exome sequencing, advanced oligonucleotide/SNP array comparative genomic hybridization, expanded carrier screening, large-scale metabolomics Source: lab pages Currently hiring › “We generally have positions available every year.” Source: lab positions page No funding stated	Poster Wed Oct 21 2:30 pm A multimodal genomic odyssey reveals complex biallelic DNM1 alterations in developmental and epileptic encephalopathy Laboratory Genetics and Genomics Collaborators: Baylor Genetics, Texas Children's Hospital Clinical geneticsEpilepsyLaboratory genetics and genomicsNeurodevelopmental
Stankiewicz Labbcm.edu/research/faculty-labs/pawel-stankiewicz-lab Dry lab~4 people Analyzes chromosomal microarray, exome-sequencing and transcriptome data on lung-development disorders and somatic mosaicism. Studies FOXF1, TBX4-FGF10 and genomic rearrangements. 14 papers since 2024 › Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes Genome Medicine, 2025 Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids Molecular Psychiatry, 2024 Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage Clinical Chemistry, 2024 Source: OpenAlex author A5075195054 Funded by NIH/NICHD (R01HD087292), NIH/NHLBI (R01HL137203) +1 more › NIH/NICHD (R01HD087292), Unrecognized scale and clinical relevance of somatic mosaicism · 2017 - 2022 The NIH's standard multi-year research project grant. “R01HD087292 2017 - 2022 NIH/NICHD” NIH/NHLBI (R01HL137203), Epigenomic dysfunction at 16q24.1 vascular defects and perinatal consequences · 2017 - 2021 The NIH's standard multi-year research project grant. “R01HL137203 2017 - 2021 NIH/NHLBI” NIH/NHLBI (R01HL101975), Pathogenetics of the FOX transcription factor gene cluster on 16q24.1 · 2010 - 2014 The NIH's standard multi-year research project grant. “R01HL101975 2010 - 2014 NIH/NHLBI” Source: lab pages 8 platforms and techniques › Analyzes Chromosomal microarray, Exome sequencing Techniques Chromosomal microarray analysis, Exome sequencing, Immunohistochemical analysis, Nonallelic homologous recombination (NAHR), SNV/CNV somatic mosaicism, Human lung organogenesis Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm De novo balanced chromosomal translocations separating intact FOXF1 from its distant lung-specific enhancer in two families with lethal alveolar capillary dysplasia. Molecular Effects of Genetic Variation Collaborators: UNSW Sydney, Sydney Children's Hospital +2 more Chromosomal abnormalitiesChromosomal structure/functionClinical geneticsCopy number/structural variation
Undiagnosed Diseases Centerbcm.edu/research/research-centers/undiagnosed-diseases-center/center-members Wet + dry lab~34 people Evaluates rare undiagnosed cases using WES/WGS, genomics, Drosophila screening and multi-omics. Supports diagnosis through the UDN and Baylor Genetics. 61 papers since 2024 › AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders NEJM AI, 2024 Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing The American Journal of Human Genetics, 2024 Source: OpenAlex author A5042694502 Funded by National Institutes of Health (NIH) › National Institutes of Health (NIH), Undiagnosed Diseases Network · active “Undiagnosed Diseases Network is a National Institutes of Health (NIH)-funded program” Source: lab pages 8 platforms and techniques › Works with Whole-exome sequencing (WES), Whole-genome sequencing (WGS), Clinical untargeted metabolomics pipeline Techniques Drosophila functional screening, Bioinformatic tool development, Cell culture and conditional mouse models, Genomic variant curation and interpretation, Multi-omics disease-model profiling Source: lab pages No openings posted	Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice When Short Reads Fall Short: Oxford Nanopore Long-Read Sequencing Reveals Diagnostic Structural Variants and Resolves Repeat Expansion Architecture in Unsolved Rare Disease Families Laboratory Genetics and Genomics Long-read sequencingCopy number/structural variationTriplet and other repeatsIntellectual and developmental disability
Lee Labbcm.edu/research/faculty-labs/brendan-lee-lab Wet lab~17 people Studies dysplasias and inborn errors using mammalian tissues, stable isotopic measurements and multi-omic phenotyping. Develops cell and gene therapies with Texas Children’s clinics. 61 papers since 2024 › AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders NEJM AI, 2024 Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans The Journal of Experimental Medicine, 2024 The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing The American Journal of Human Genetics, 2024 Source: OpenAlex author A5042694502 Funded by NIH, NIH +2 more › NIH, Rare Diseases Clinical Research Network (RDCRN) · active “Our mechanistic discoveries are translated via clinical research ... as part of the NIH Rare Diseases Clinical Research Network.” NIH, HEAL Initiative · active “I lead the RE-JOIN consortium of the NIH HEAL initiative.” All of Us, Evenings with Genetics Scholars Program · active “I am committed to developing a scientific workforce as part of the All of Us Evenings with Genetics Scholars Program.” +1 more on the lab page Source: lab pages 8 platforms and techniques › Works with Stable isotopic measurements, Exome sequencing Techniques Mammalian tissue and organ development, Helper-dependent adenoviral gene transfer, Gene discovery, Multi-omic phenotyping, TGF-beta, Wnt and Notch signaling, Clinical interventional studies Source: lab pages No openings posted	Moderator Fri Oct 23 1:30 pm The Future of Gene Therapy: Policy Pathways for Safe, Scalable Innovation
ClinGen Community Curation (C3)clinicalgenome.org/working-groups/clingen-community-curation-c3 Works in cancer genetics and clinical genetics.	Poster Wed Oct 21 2:30 pm Performance of preliminary SDHB specifications for ACMG/AMP sequence variant classification v3: A pilot assessment Genetic, Genomic, and Epigenomic Resources and Databases Collaborators: Texas Children's Hospital, The University of Sydney +5 more Cancer syndromesEndocrine systemGenetic testingLaboratory genetics and genomics
Genome Assembly Group Works in rare disease.	Moderator Thu Oct 22 11:00 am Pivoting from Gene-Level Analyses to Isoform-Resolved Biology Poster Thu Oct 22 4:15 pm ClinGen variant curation in X-linked inherited retinal disease genes CACNA1F, CHM, NDP, NYX, OFD1, OPN1LW, OPN1MW, RP2, RPGR and RS1 Mendelian Phenotypes Collaborators: University of California San Diego, University of Alberta +7 more Clinical geneticsGenotype-phenotype correlationsSensory disordersVariant interpretation
Posey Laboratory Works in rare disease.	Poster Wed Oct 21 2:30 pm Genomic Dissection of Septo-Optic Dysplasia Supports a Pathway-Defined Diagnostic Framework for Clinically Heterogeneous Rare Diseases Mendelian Phenotypes Collaborators: Baylor Genetics, Texas Children's Hospital Characterization of syndromesCharacterization of disordersClinical geneticsDiagnostics Moderator Fri Oct 23 1:30 pm Decoding Malformation Syndromes: New Disease Genes Across Organ Systems
8 more presenters — research group not yet identified

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