Baylor College of Medicine at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Baylor College of Medicine brings 54 presentations from 21 research groups to ASHG 2026 in Montréal. Its program at this meeting centres on rare-disease diagnosis, population genomics, and cancer research. The Human Genome Sequencing Center reports screening findings in over 90% of individuals, the Atkinson Lab studies 3,500 phenotypes across ancestries, and the Bioinformatics Research Laboratory interprets noncoding variants in congenital heart disease.
| 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 Generates and analyzes WGS, WES, RNA-Seq capture and targeted NGS panels. Supports rare disease, population genomics, cancer and functional genomics.
| Talk Wed Oct 21 1:51 pm Clinically integrated genomic screening yields reportable findings in >90% of individuals 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 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 Biochemical pathologyClinical testingGenetic testingMetabolic disorder Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Clinically integrated genomic screening yields reportable findings in >90% of individualsElectronic 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 Somatic variantsMosaicismCancer syndromesRisk assessment Session Thu Oct 22 1:30 pm Poster Thu Oct 22 4:15 pm A Multi-Agent Framework for High-Throughput Multiomics at a Clinical Genome Center Artificial intelligenceBioinformaticsClinical testingLaboratory genetics and genomics Poster Thu Oct 22 4:15 pm Multi-Omics Profiling of a Cohort of Xia-Gibbs Syndrome Individuals 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 Copy number/structural variationPsychiatric geneticsLaboratory genetics and genomicsVariant calling Symposium Fri Oct 23 8:15 am Symposium Fri Oct 23 9:40 am Talk Fri Oct 23 2:00 pm Mission aware multi omics profiling of early human adaptation to spaceflight 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 intelligenceExome/genome sequencingIdentification of disease genesMendelian disorder |
Atkinson Labegatkinsonlab.com 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.
| Session Wed Oct 21 1:30 pm Session Wed Oct 21 1:30 pm 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 Genetic variationVariant callingSomatic variantsBioinformatics Session Wed Oct 21 2:45 pm Poster Thu Oct 22 4:15 pm Leveraging LD to Improve Lp(a) Genetic Prediction Across Populations Cardiovascular systemLinkage disequilibriumPolygenic risk scorePopulation genetics Poster Fri Oct 23 2:30 pm The landscape of deleterious genetic interactions in the human genome 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 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 Complex traitsMethodologyPopulation geneticsRare variants Session Sat Oct 24 9:45 am |
Bioinformatics Research Laboratorygenboree.org/site/team Analyzes small and long RNA-seq, epigenomic and whole-exome sequencing data with Genboree Workbench tools. Covers ClinGen variant interpretation and ExRNA Atlas resources.
| Poster Thu Oct 22 4:15 pm Information-Theoretic Prioritization of Pathogenic Noncoding Variants Reveals Subtype-Specific Regulatory Mechanisms in Congenital Heart Disease 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 Clinical geneticsComputational toolsDatabasesVariant interpretation Poster Thu Oct 22 4:15 pm A Scalable Framework for Defining Structural Variants in the ClinGen Allele Registry BioinformaticsComputational toolsCopy number/structural variationDatabases |
Liu Labliuzlab.org 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.
| Poster Thu Oct 22 4:15 pm Poster Thu Oct 22 4:15 pm Matched sibling analysis reveals oligogenic burden of rare damaging variants in autism spectrum disorder AutismBioinformaticsExome/genome sequencingRare variants Symposium Fri Oct 23 8:35 am |
BCM-GREGoRgregorconsortium.org 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.
| Poster Thu Oct 22 4:15 pm TTC36 and autosomal recessive tyrosinemia: evidence from human genetics and functional validation 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 Candidate geneCharacterization of syndromesIdentification of disease genesMalformation …our abstract on a novel neurodevelopmental-skeletal spliceosomopathy was selected for a platform presentation at ASHG 2026. Hope to see you in Montreal!…View post on LinkedInPosted Jul 9, 2026 |
Dhindsa Labdhindsalab.com/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.
| 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 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 Large-scale biobanksGenetic variationGenomicsPrecision medicine |
Sedlazeck Labfritzsedlazeck.github.io 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.
| Symposium Wed Oct 21 8:50 am Poster Fri Oct 23 2:30 pm A multi-tissue atlas of mosaic structural variation, tandem repeat instability, and DNA methylation across human tissues BioinformaticsEpigeneticsGenetic variationGenomics |
Wangler Labbcm.edu/research/faculty-labs/michael-wangler-lab/members We study rare childhood diseases using medical genetics, genomics, and Drosophila models. We use Drosophila models for diagnostic paradigms.
| Poster Fri Oct 23 2:30 pm The Model Organisms Screening Center’s (MOSC) contributions to solving Undiagnosed Disease Network (UDN) cases 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 AutismGenetic variationInheritance patternsModel organisms |
Zong Labbcm.edu/research/faculty-labs/chenghang-zong-lab/lab-members 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.
| Poster Wed Oct 21 2:30 pm SigFormer: an Attention-Based Framework for Robust Single-Sample Mutational Signature Decomposition 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 Somatic variantsVariant callingDatabasesArtificial intelligence |
Center for Precision Medicine Modelsbcm.edu/research/research-centers/center-for-precision-medicine-models 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.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Precision Medicine Models for Rare and Undiagnosed Mendelian DisordersGenome editing/CRISPRIdentification of disease genesMendelian disorderModel organisms |
Diagnostic Laboratoriesbcm.edu/departments/molecular-and-human-genetics/our-team/diagnostic-laboratory-faculty 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.
| Poster Fri Oct 23 2:30 pm Shared Germline and Clinical Signatures Between Neurodevelopmental Disorders and Pediatric Malignancies CancerExome/genome sequencingGenetic variationMulti-omics |
Epidemiology and Population Sciences Programtexaschildrens.org/tcri/our-research/areas-research/epidemiology 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.
| 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 CancerEpidemiologyEpigenome-wide association studiesMethylation |
Erwin Laberwinlab.org Studies repetitive DNA with long read sequencing data and computational workflows. Develops experimental and bioinformatic tools to characterize variants in human disease.
| Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Pervasive Tandem Repeat Heterogeneity in the Male GermlineSomatic variantsReproductive geneticsMosaicismLong-read sequencing |
Laboratory Genetics and Genomics Fellowsbcm.edu/departments/molecular-and-human-genetics/education/clinical-laboratory-fellowships/fellows-and-alumni 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.
| Poster Wed Oct 21 2:30 pm A multimodal genomic odyssey reveals complex biallelic DNM1 alterations in developmental and epileptic encephalopathy Clinical geneticsEpilepsyLaboratory genetics and genomicsNeurodevelopmental |
Stankiewicz Labbcm.edu/research/faculty-labs/pawel-stankiewicz-lab Analyzes chromosomal microarray, exome-sequencing and transcriptome data on lung-development disorders and somatic mosaicism. Studies FOXF1, TBX4-FGF10 and genomic rearrangements.
| 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. Chromosomal abnormalitiesChromosomal structure/functionClinical geneticsCopy number/structural variation |
Undiagnosed Diseases Centerbcm.edu/research/research-centers/undiagnosed-diseases-center/center-members Evaluates rare undiagnosed cases using WES/WGS, genomics, Drosophila screening and multi-omics. Supports diagnosis through the UDN and Baylor Genetics.
| 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 FamiliesLong-read sequencingCopy number/structural variationTriplet and other repeatsIntellectual and developmental disability |
Zoghbi Labbcm.edu/research/faculty-labs/huda-zoghbi-lab/lab-members Uses genetic, cell biological and biochemical approaches in cells, fruit flies and mice. Studies polyglutamine neurodegenerative diseases, Math1 neurodevelopment and MECP2 mutations.
| Poster Thu Oct 22 4:15 pm Massively parallel functional characterization of noncoding X-linked mutations in autism Regulation of transcriptionRare variantsAutismGene regulation |
Lee Labbcm.edu/research/faculty-labs/brendan-lee-lab 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.
| Session Wed Oct 21 2:45 pm Session Fri Oct 23 1:30 pm |
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 Cancer syndromesEndocrine systemGenetic testingLaboratory genetics and genomics |
Genome Assembly Group Works in rare disease. | Session Thu Oct 22 11:00 am 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 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 Characterization of syndromesCharacterization of disordersClinical geneticsDiagnostics Session Fri Oct 23 1:30 pm |
| 10 more presenters — research group not yet identified | |
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