ASHG 2026 · Hospital & health system
Hospital for Sick Children at ASHG 2026
Toronto, Ontario
Hospital for Sick Children at ASHG 2026 in Montréal: 42 presentations (37 posters, 3 platform talks, 1 featured symposium); 20 research groups.
42
presentations on the program
20
research groups identified
5
sessions invited to or moderated
2
Reviewers’ Choice abstracts
| Organization | ASHG 2026 Attendance |
|---|---|
Hospital for Sick Children Toronto, Ontario | 15 Staff Scientists · 9 PhD Students · 4 PIs · 2 Postdocs |
Centre for Applied Genomicstcag.ca Runs Illumina NovaSeq 6000, MiSeq, PacBio Sequel IIe and Oxford Nanopore PromethION; analyzes NGS, microarray and methylation data. Serves academic, commercial and pharmaceutical researchers.
| Talk Wed Oct 21 2:19 pm Rare variants in small nuclear RNA genes reveal a splicing related genetic mechanism in individuals ascertained for autism spectrum disorder AutismGenotype-phenotype correlationsNon-coding RNARegulation of transcription Poster Thu Oct 22 4:15 pm ★ Reviewers’ Choice Rare variants in small nuclear RNA genes reveal a splicing related genetic mechanism in individuals ascertained for autism spectrum disorderAutismGenotype-phenotype correlationsNon-coding RNARegulation of transcription Poster Thu Oct 22 4:15 pm Assessing differential methylation in long-read de novo assemblies and variation graphs Computational toolsLong-read sequencingMethylationBioinformatics Poster Thu Oct 22 4:15 pm The revised diploid genome sequence of an individual human: an optimized workflow for scaling of near telomere-to-telomere assemblies Exome/genome sequencingGenetic mappingGenetic variationGenomic structure Poster Fri Oct 23 2:30 pm Incorporating amino acid molecular features into language model training to enhance missense variant effect prediction in intrinsically disordered regions of proteins Artificial intelligenceAutismGenomicsMachine learning Poster Fri Oct 23 2:30 pm Whole-genome sequence analysis of 348 families expands the genomic contribution of common and rare variants to cerebral palsy GenomicsGenome-wide association studyGenetic variationExome/genome sequencing Poster Fri Oct 23 2:30 pm Multidimensional Spatiotemporal and Dosage Contexts of Shared Biological Pathways in Six Psychiatric Disorders. AutismPsychiatric geneticsCopy number/structural variationNeurodevelopmental |
Costain Lablab.research.sickkids.ca/costain Uses genome sequencing to diagnose children with undiagnosed genetic disease. Interprets rare variation for epilepsy, medical complexity and precision therapy development.
| Poster Wed Oct 21 2:30 pm Population-scale prioritization of common heterozygous SNPs for allele-specific antisense oligonucleotide therapy design Molecular therapeuticsPrecision medicinePopulation geneticsSNP analysis/discovery Poster Wed Oct 21 2:30 pm Implementing institution-wide programs for the proactive identification and accelerated testing of genetic variants amenable to antisense oligonucleotide treatments Clinical geneticsGene therapyMolecular therapeuticsPrecision medicine Talk Thu Oct 22 2:00 pm Gene-STEPS: Rapid genome sequencing improves diagnostic yield and management for infants with epilepsy Clinical testingEpilepsyExome/genome sequencingLong-read sequencing Poster Thu Oct 22 4:15 pm Systematic identification of rare splice-disrupting deep intronic variants for targeted antisense oligonucleotide design Splicing mechanismsVariant interpretationRare variantsRNA-seq Talk Fri Oct 23 11:45 am Genome-wide tandem repeat expansions in regulatory regions contribute to epilepsy risk EpilepsyTriplet and other repeats Talk Fri Oct 23 2:15 pm A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases Precision medicineComputational toolsDatabasesGene therapy Session Sat Oct 24 8:15 am |
Weksberg Labsickkids.ca/en/staff/w/rosanna-weksberg Develops genome-wide DNA methylation classifiers and bioinformatic pipelines, including artificial intelligence, for rare neurodevelopmental disorders. Uses EpigenCentral to classify uncertain variants.
| Poster Thu Oct 22 4:15 pm Episignatures for ASXL1, ASXL2, and RING1 Variants Enable Accurate Classification of Clinically Overlapping Neurodevelopmental Disorders EpigeneticsIntellectual and developmental disabilityNeurodevelopmentalMethylation Poster Thu Oct 22 4:15 pm Accelerated prenatal episignature development via transformation of blood-derived episignatures into cell-type agnostic classifiers Machine learningMethylationPrenatal diagnosisRare variants Symposium Fri Oct 23 8:35 am Poster Fri Oct 23 2:30 pm ★ Reviewers’ Choice Combined Genetic and Epigenetic Sequencing Enables Precision Diagnosis of Kabuki Syndrome Type 1EpigeneticsGenetic testingIntellectual and developmental disabilityLong-read sequencing |
Yuen Lablab.research.sickkids.ca/yuen Analyzes short- and long-read WGS and develops computational algorithms for genome-wide tandem-repeat screens. Focuses on neurodevelopmental and neurological disorders.
| Moderator Wed Oct 21 11:00 am Poster Thu Oct 22 4:15 pm Functional analysis of DIP2B in zebrafish reveals conserved roles in cardiac function linked to repeat-associated cardiomyopathy Molecular pathophysiologyCardiovascular systemTransgenic modelCandidate gene Poster Fri Oct 23 2:30 pm Tandem Repeat Expansions in Tetralogy of Fallot: A Multi-Cohort, Multi-Omics Study Long-read sequencingTriplet and other repeatsRNA-seqMethylation Poster Fri Oct 23 2:30 pm Sex-biased de novo variant burden and structural genomic landscape in ADHD and OCD NeurodevelopmentalTriplet and other repeatsPsychiatric geneticsExome/genome sequencing |
Genetics & Genome Biologysickkids.ca/en/research/research-programs/genetics-genome-biology Analyzes whole-genome sequence data and DNA methylation assays with AI pipelines. Uses genetics and genomics for paediatric disease diagnosis, risk prediction and treatment.
| Moderator Thu Oct 22 8:15 am Poster Thu Oct 22 4:15 pm Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists (CCMG) DatabasesLaboratory genetics and genomicsGenetic variationVariant interpretation Poster Thu Oct 22 4:15 pm The burden of secondary findings from genome sequencing across genetic ancestry groups in Canada and the United States Exome/genome sequencingPopulation geneticsPrecision medicineVariant interpretation |
Hayeems Lablab.research.sickkids.ca/hayeems Evaluates genome-wide sequencing, exome sequencing and genetic testing with C-GUIDE and P-GUIDE. Studies maternal-child genomic care with Genome-wide Sequencing Ontario and CHILD-BRIGHT.
| Poster Wed Oct 21 2:30 pm Adolescents’ perspectives on the personal utility of genetic testing Clinical geneticsEducationEthical, legal, and social implicationsGenetic testing Poster Fri Oct 23 2:30 pm The Clinician-reported Genetic testing Utility InDEX for Critical Care (C-GUIDE Critical Care): Preliminary evidence of construct validity Clinical geneticsDiagnosticsPolicy issues |
Wilson Labwilsonlab.org Analyzes scRNA-seq, RNA sequencing and ChIP-exo data with comparative genomics. Studies genome regulation, evolution and human disease.
| Poster Wed Oct 21 2:30 pm Understanding Treatment Response and Disease Outcomes in Pediatric Lupus Using Whole Blood RNA-sequencing Autoimmune disorderBioinformaticsComplex diseasesRNA-seq Poster Thu Oct 22 4:15 pm Biallelic TOP2B TOPRIM domain variants identified in a child with syndromic developmental diease are perinatal lethal in mice Exome/genome sequencingModel organismsNeurodevelopmentalRare variants |
Centre for Applied Genomics (TCAG)tcag.ca Runs Illumina NovaSeq 6000, MiSeq, PacBio Sequel IIe and Oxford Nanopore PromethION platforms. Supports human genomics and disease research worldwide.
| Session Tue Oct 20 1:00 pm Poster Wed Oct 21 2:30 pm Genes/variants for diagnostic testing and pre-clinical research in Autism Spectrum Disorder. AutismNeurodevelopmentalIdentification of disease genesGenotype-phenotype correlations |
Cardiac Genome Clinictedrogersresearch.ca/cardiac-genome-clinic Investigates heart-failure genetics using genome-wide sequencing and standard genetics services. Uses patient clinical and genomic data to improve diagnosis, treatment and precision management.
| Poster Wed Oct 21 2:30 pm Congenital NAD deficiency disorder-associated gene variants in thoracic aortic aneurysms and aortic valve disease Cardiovascular systemCandidate geneCharacterization of disordersEtiology |
Hiraki Lablab.research.sickkids.ca/hiraki/our-team Studies rare systemic inflammatory disease using genome-wide sequencing in patient and family cohorts. Focuses on systemic lupus, neonatal lupus and immune-inflammatory dysregulation.
| Poster Fri Oct 23 2:30 pm Monozygotic triplets discordant for cardiac neonatal lupus erythematosus: case report and epigenetic pilot study Autoimmune disorderCardiovascular systemClinical geneticsEpigenetics |
Mital Lablab.research.sickkids.ca/mital Studies whole-genome, whole-exome and RNA-sequencing data, plus patient-derived iPSCs, in childhood heart disease. Applies findings to congenital heart disease, cardiomyopathy and pediatric heart failure.
| Poster Wed Oct 21 2:30 pm Blood-derived RNA-sequencing for detecting splice-disrupting variants in pediatric cardiac disorders Cardiovascular systemGenomicsMulti-omicsRNA-seq |
Ocular Genetics Programsickkids.ca/en/care-services/clinical-departments/ophthalmology-vision-sciences Performs whole-exome/whole-genome sequencing, visual electrophysiology and organoid/animal-model studies in inherited retinal disease. Supports genetic diagnosis, therapeutic development and patient-reported outcomes.
| Poster Wed Oct 21 2:30 pm Unbiased Long-Read Whole-Genome Sequencing Enables High-Resolution Mapping of Transgene Concatenation and Off-target Genomic Disruption in a Mouse Model Genome editing/CRISPRBioinformaticsTransgenic modelSequencing technology |
Ocular Genetics Research Teamsickkids.ca/en/care-services/clinical-departments/ocular-genetics Performs research genetic testing with whole exome and whole genome sequencing. Aims to improve genetic diagnosis and therapies for inherited retinal diseases.
| Poster Thu Oct 22 4:15 pm Developing Enzyme Assay as a Strategy to Validate ‘Variants of Uncertain Significance’ in Patients with Inherited Retinal Dystrophies Cellular metabolismGenetic testingGenetic variationGenotype-phenotype correlations |
Scott Lablab.research.sickkids.ca/scott Studies zebrafish cardiac development using transgenic and mutant models, live imaging, single-cell RNAseq and ATACseq. Targets congenital heart disease, cardiac regeneration and craniofacial malformations.
| Poster Thu Oct 22 4:15 pm Using deeply conserved developmental enhancers to identify a TBX20 enhancer mutation contributing to congenital heart disease Gene regulationRare variantsCardiovascular systemChromatin |
Strug Lablab.research.sickkids.ca/strug Develops statistical methods for cystic fibrosis and epilepsy genetics using RNA-seq, next-generation sequencing and PacBio long-read sequencing. Identifies therapeutic targets and builds prognostic models.
| Poster Thu Oct 22 4:15 pm Epigenetic Age Acceleration in Cystic Fibrosis Is Reversed by CFTR Modulator Therapy Through Reductions in Inflammation and Glycemia EpigeneticsLong-read sequencingMendelian disorderMethylation |
Technology Assessment at SickKids (TASK)lab.research.sickkids.ca/task Evaluates whole-genome, exome and pharmacogenomic testing using cost-effectiveness, microcosting and pediatric cohort data. Supports child-health technology and policy decisions.
| Poster Wed Oct 21 2:30 pm Including the Excluded: A Scoping Review to Understand the Concept of Personal Utility Among Underrepresented Communities Ethical, legal, and social implicationsPolicy issuesPsychosocial issuesGenetic counseling |
Statistical Analysistcag.ca/staff/index.html Analyzes Affymetrix, Illumina, aCGH, Agilent oligonucleotide, SNP-array and methylation-array data. Provides study design, power calculations, interpretation and grant-writing support to client projects.
| Moderator Sat Oct 24 8:15 am |
MacDonald Lab Works in rare disease. | Poster Fri Oct 23 2:30 pm Expanding the clinical applications of proteomics in rare Mendelian disorder diagnostics Clinical geneticsGenomicsMendelian disorderProteomics |
Marshall Lab Works in rare disease and clinical genetics. | Poster Wed Oct 21 2:30 pm Detection of ATAD3 Duplications in a Highly Homologous Genomic Locus by Combined Short- and Long-read DNA/RNA Sequencing Alternative splicingBioinformaticsClinical geneticsCopy number/structural variation |
Translational Genomics node of the Precision Child Health initiative Works in rare disease and clinical genetics. | Poster Fri Oct 23 2:30 pm Deploying a multi’omics approach to address the diagnostic gap in rare diseases: the DECODE(u)R study DiagnosticsLong-read sequencingMulti-omicsProteomics |
| 5 more presenters — research group not yet identified | |
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