| BC Generations Project | HMC000045 | population-based cohort; prevention; chronic disease risk | 29852 | cancer, chronic disease | British Columbian adults | Buffy Coat, DNA, Dried Blood Spots, Red Blood Cells, Serum, Urine, Whole Blood | Genomics, Metabolomics | Genomic Profiling by Array (Affymetrix 2.0 UK Biobank gene chip), SNP Array |
| Clinical Utility of Using Genomic Data to Assess Cardiovascular Risk and Guide Lipid-lowering Therapy in Patients with High Risk of Premature Cardiovascular Disease | HMC000046 | polygenic risk scores, coronary artery disease, lipid targets, subclinical atherosclerosis, screening | 397 | coronary artery disease | Index, FDR | Saliva | Genomics | Targeted Sequencing |
| Integration of environmental and genomic risk factors to predict fibrotic interstitial lung disease (fILD) progression. | HMC000049 | Genomics, Epigenomics, Air pollution | 1000 | interstitial lung disease | Canadian Registry for Pulmonary Fibrosis (CER-PF) | Air, DNA | Epigenomics, Exposomics, Genomics | DNA Methylation: Infinium Methylation EPIC array, Environment, Whole Genome Shotgun sequencing, methylation Quantitative Trait Loci (meQTLs) |
| Targeting SS18::SSX Biology In Synovial Sarcomagenesis | HMC000061 | Synovial Sarcoma, Epigenetics, cancer, fusion oncoprotein | 53 | cancer, synovial sarcoma | Synovial Sarcoma Diagnosis, Non-Synovial Sarcoma Diagnosis | BCOR-rearranged sarcoma, Synovial sarcoma | Epigenomics, Genomics, Transcriptomics | ChIP-seq for H2AK119Ub1 (histone modification), ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (histone modification), ChIP-seq for H3K36me2 (histone modification), ChIP-seq for H3K36me3 (histone modification), ChIP-seq for H3K4me1 (histone modification), ChIP-seq for H3K4me3 (histone modification), ChIP-seq for H3K9me3 (histone modification), DNA Methylation: WGBS (Whole Genome Bisulfite Sequencing), Duet evoC (genome, 5mc, 5hm sequencing), RNA-seq, Single Cell Chromatin Accessibility Sequencing (scATAC), Whole Genome Sequencing (WGS) |
| Epigenetic Profiling of Human Chondrosarcoma | HMC000062 | chondrosarcoma, RNA-seq, Marathon of Hope, genomics | 42 | bone cancer, chondrosarcoma, cancer | Tumour, Normal | Chondrosarcoma, DNA | Genomics, Transcriptomics | RNA-seq, Whole Genome Sequencing (WGS) |
| The Pathognomonic FOXL2 C134W Mutation Alters DNA-Binding Specificity | HMC000065 | FOXL2 transcription factor, adult-type granulosa cell tumors, ovary, cancer, epigenomics | 1 | cancer, granulosa cell tumor | SVOG3e cell line, KGN cell line | Ovary | Epigenomics, Genomics, Proteomics, Transcriptomics | ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (histone modification), ChIP-seq for H3K4me1 (histone modification), ChIP-seq for H3K4me3 (histone modification), Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS), RNA-seq, Transcription Factor ChIP-seq |
| Whole Exome Sequencing of Neonatal Diffuse Cutaneous Mastocytosis | HMC000072 | KIT gene; diffuse neoneonatal cutaneous mastocytosis; WES; rare pathology | 1 | diffuse cutaneous mastocytosis | | Skin | Genomics | Whole Exome Sequencing |
| Simultaneous Genetic and Epigenetic Analysis with Biomodal Duet Multiomics Solution +modC | HMC000077 | multiomics; genotype; DNA methylation; cell-free DNA; allelic-specific methylation | 8 | cancer, synovial sarcoma | Biomodal Hirst pilot project | Synovial sarcoma, cfDNA | Epigenomics, Genomics | biomodal(duet+modC) |
| BQC19: Biobanque québécoise de la COVID-19 | HMC000096 | COVID-19, biobank, multiomics, longitudinal study | 6272 | COVID-19, severe COVID-19, non-severe COVID-19, long COVID, critical COVID-19 | SARS-CoV-2 Positive patients, Mother and Child Centre, SARS-CoV-2 Negative patients | DNA, PBMC, Plasma, RNA, SARS-CoV-2 viral DNA, Serum | Genomics, Metabolomics, Proteomics, Transcriptomics | Genome-Wide Association Study (GWAS), Metabolon, Neutralizing antibodies against SARS-CoV-2, OLINK, RNA-seq, Roche Diagnostics, SARS-CoV-2 specific antibodies detected by ELISA, SomaLogic, Whole Genome Sequencing (WGS) |