McGill University at ASHG 2026

Olink HT, Exome sequencing (30X), Low-pass whole-genome sequencing, scRNA-seq

Genome-wide association studies (GWAS), Mendelian randomization (MR), Mediation analysis, Colocalization, Fine-mapping, Gene-expression analysis at tissue and single-cell resolution, Bayesian methods, Polygenic risk scores

CRISPR/Cas9 gene editing system, Automated imaging, Functional profiling, Single-cell phenotyping assays, Nuclear magnetic resonance (NMR) in solution, Brain multimodal MRI, Quantitative susceptibility mapping (QSM), Validated GCase assays

Human induced pluripotent stem cells (iPSCs), Organoid models, CRISPR gene editing, C. elegans models, Zebrafish models, AlphaFold2 and AlphaMissense, Quantitative immunohistochemistry, Brain MRI biomarkers

ChIP-seq, RNA-Seq, Exome sequencing, Whole-genome sequencing, scRNA-seq, ATAC-seq, PacBio long-read sequencing, lentiMPRA

Comparative epigenomics, Transposable-element regulatory analysis, Structural-variant detection, Genome graphs, Host–virus interaction analysis

targeted bisulfite sequencing, whole genome bisulfite sequencing, Illumina beadchip-derived DNA methylation, 450k methylation array, Sanger imputation service

dimension reduction, clustering and networks, Mendelian randomization, rare variant analysis, polygenic risk scores, microbiome OTU co-occurrence networks

Next-generation sequencing, Gene arrays, Exome sequencing

CRISPR/Cas9 editing, iPSC-derived neurons, Cerebral organoid cultures, Behavioural studies in rodents, Electrophysiology, Primary neuronal co-cultures, Patient stem-cell-derived neuron models, Biochemical, molecular, structural, genetic and cellular approaches

Whole-genome sequencing, Proteomics GWAS

Mendelian randomization, Statistical colocalization, Polygenic risk scores, Proteomics GWAS, Population genetics, Rare coding variant analysis

MRI, Next-generation sequencing, Exome sequencing

Deep clinical phenotyping, Patient-derived iPSCs, CRISPR-Cas9 gene editing, Confocal microscopy, MRI pattern recognition, Advanced neuroimaging

HiFi-GS

Patient iPSCs, Mouse models, Clinical research, Gene therapies and antisense oligonucleotides, PDGFRα+ oligodendrocyte precursor-cell immunopanning, mRNA replacement therapies

PEX1-G843D patient skin cell-based screening assay, GFP-PTS1 reporter, CRISPR/Cas9 gene editing, LC-MSMS system, Confocal immunofluorescence microscopy, HPLC analysis, Custom-made clinical database

Antisense oligonucleotide therapy, AAV-mediated PEX1 gene augmentation, CRISPR/Cas9 gene editing, Pex16-deficient mouse model, PEX1-G844D mouse model, Immunohistochemistry, Machine-learning severity scoring, Drug screening

10X Genomics Chromium, Illumina NovaSeq 6000, MGI DNBSeq G-400, Oxford Nanopore MinION, GridION and PromethION, PacBio Sequel, Single-cell ATAC-seq, CITE-seq, Single-cell multiome

Spatial transcriptomics, Long-read sequencing, Direct RNA sequencing, Microfluidics, Ultrasensitive DNA extraction and targeted sequencing, Bioinformatics analysis, High-molecular-weight DNA extraction, WGBS

rMCMC Gibbs sampler, Phenoselect three-population test, Haplotype-based methods, Standard association testing, Population-genetic analysis of recombination, selection, founder effect and admixture

BIO-PORTAL, Nanopore sequencing, FibroScan, MRI imaging

CRISPR-based genome engineering, High-throughput mutagenesis, CRISPR/Cas9 screening, Genetic imputation, Transcriptome-wide Mendelian randomization, Causal inference, Machine learning, Ancient DNA

RNA-seq, ChIP-seq, Whole-genome sequencing, scATAC-seq, Single-cell transcriptomic data, Spatial transcriptomics, Single-cell multi-omic profiles, Electronic health records (EHR)

Latent variable/topic models, Matrix/tensor decomposition, Deep generative models, Approximate Bayesian inference, Federated learning, Polygenic risk score inference, Cell-cell communication inference

BIO-PORTAL, Nanopore sequencing, FibroScan, MRI imaging

CRISPR-based genome engineering, High-throughput mutagenesis, CRISPR/Cas9 screening, Genetic imputation, Transcriptome-wide Mendelian randomization, Causal inference, Machine learning, Ancient DNA

Next-generation sequencing (NGS), Single-cell omics, Spatial omics, RNA sequencing (RNA-seq), Genome sequencing, Digital spatial profiling, Cell-free tumor DNA (ctDNA) liquid biopsy

Gene perturbation, High-content imaging, 3D tumor models and organoids, Functional genomics, Pharmacological assays, Integrative data analysis

whole-exome sequencing

spatial transcriptomics, single-cell RNA-seq, spatial metabolomics

deep learning, Bayesian modeling, topic modeling, Kolmogorov-Arnold networks, multimodal topic learning, SIMEX

scRNA-seq, Visium, GeoMx, WGS, WES, PacBio Hi-Fi, ONT, ChIP-seq

de novo genome assembly, somatic variant detection, CRISPR-Cas9 statistical analysis, patient-derived xenograft models, DADA2/QIIME workflows, GATK best practices

WGS, WES, RNA-seq, ChIP-Seq, HiC, single-cell RNA-seq, Methyl-Sequencing, PacBio HiFi

variant calling, de novo genome assembly, metagenomics and microbiome analysis, machine learning, HPC workflow development

Histopathology, Translational genomics, Microscopy, Bioinformatics, Proteomics, Lipidomics, Immunohistochemistry, Human induced-pluripotent stem cells

comparative policy analysis, qualitative analysis

comparative policy analysis, social sciences research methods, narrative review

BIO-PORTAL, Nanopore sequencing, FibroScan, MRI imaging

CRISPR-based genome engineering, High-throughput mutagenesis, CRISPR/Cas9 screening, Genetic imputation, Transcriptome-wide Mendelian randomization, Causal inference, Machine learning, Ancient DNA

Murine satellite-cell isolation and ex vivo differentiation, Primary myoblast differentiation assay

Biochemistry, molecular and cell biology, Duchenne muscular dystrophy and rhabdomyosarcoma disease models, Automated quantification of subcellular particles, Autophagy monitoring in neural stem and progenitor cells

scATAC-seq, spatial transcriptomics, whole-genome sequencing, whole-genome bisulfate sequencing, RNA-seq, ChIP-seq, MRI, peptide array kinome data

topic models, genome language models, federated learning, cell-type deconvolution, Bayesian polygenic risk score inference, single-cell multi-omic integration, gene regulatory network inference, automatic biobank phenotyping

Whole-exome sequencing, Exome sequencing of FFPE tumors

SCCOHT cell lines, Mutational signatures, Functional studies of DICER1 mutations, MicroRNA sensor arrays, Tumor model systems, ACMG clinical criteria

Hologic Discovery dual-energy X-ray absorptiometry, Stratec XCT-2000 peripheral quantitative computed tomography, Gene sequence analysis, FileMaker

Pediatric bone histomorphometry, Biochemical markers of bone metabolism, Mechanography, Transiliac bone biopsies

Variational inference and polygenic risk prediction, UMAP, Two-locus statistics, Allele-frequency-spectrum inference, Local ancestry modeling, Admixture timing inference, ARG-based migration mapping

bulk RNA-sequencing, single-cell RNA-sequencing

mouse models, cell lines, bioinformatic analysis, histological analysis, genetic association studies, clinical trials

multi-omic integration, AI-driven analytics, familial aggregation analysis

i-BALSAC

Bioinformatic methods, Statistical methods, Genealogical reconstruction, Human microbiome profiling, Participatory science

Genome-wide CRISPR/Cas loss-of-function screens, Pooled in vivo genome-wide CRISPR/Cas9 knockout screens

CRISPR gene editing, Patient-derived organoids, Patient-derived preclinical xenografts, Immunodeficient mouse models, Bioinformatics and data mining, Molecular modeling, Orthotopic transplantation models

Exome, Transcriptome

Immunohistochemistry, Spatial molecular techniques, Patient-derived tumors, Primary cancer cell lines, Skin-cancer biobanking

Biochemical approaches, Imaging approaches, Electron microscopy, Proteomics, Lipidomics, Mouse models, PINK1 KO mice

BIO-PORTAL, Nanopore sequencing, FibroScan, MRI imaging

CRISPR-based genome engineering, High-throughput mutagenesis, CRISPR/Cas9 screening, Genetic imputation, Transcriptome-wide Mendelian randomization, Causal inference, Machine learning, Ancient DNA

next-generation sequencing, RNA sequencing, copy number variance analysis, vitamin B12 function assays

patient-derived fibroblast studies, cancer cell-line studies, mouse-derived cell models, somatic cell complementation analysis, aminoglycoside compound testing, hydroxocobalamin dose escalation, high-resolution melting

Exome sequencing, PCR amplification, Sanger sequencing

DNA extraction, Cell line establishment, In silico candidate-gene prioritization, Variant segregation analysis, Mouse models

Clinical trial design and protocol writing, Study monitoring, Electronic data capture, RNA, gene and cell therapies

CRISPR/Cas9, Mouse models

Drosophila melanogaster model system, RNA interference, Immunostaining