| 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 | Canadian Partnership Against Cancer, BC Cancer Foundation, BC Cancer Agency |
| 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 | Genome British Columbia |
| 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) | Genome British Columbia |
| 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) | Canadian Institutes of Health Research (CIHR), Terry Fox Research Institute, Marathon of Hope Cancer Centres Networks |
| 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) | Marathon of Hope Cancer Centres Networks |
| 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 | Terry Fox Research Institute |
| 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 | Universitatea de Medicina si Farmacie Victor Babes, Timisoara, Romania |
| 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) | biomodal, illumina |
| 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) | FRQS (Fonds de Recherche du Quebec-Sante), Quebec's Ministry of Health and Social Services, Public Health Agency of Canada, Genome Quebec |
| Mining The Infant Gut Microbiota To Predict And Prevent Asthma: Data From The CHILD Cohort Study | HMC000097 | | 3621 | childhood-onset asthma | Definite Asthma, No Asthma, Possible Asthma | Breast Milk, Cord Blood, Cord blood mononuclear cells (CBMC), DNA, Dust, PBMC, Plasma, RNA, Saliva/Buccal swabs, Serum, Stool, Swab (nasal), Urine, Whole Blood | Epigenomics, Genomics, Hormones, Lipidomics, Metabolomics, Microbiomics, Proteomics | Amplicon Sequencing (16S), Amplicon Sequencing (ITS), DNA Methylation: Infinium Methylation EPIC array, Gas liquid chromatography, Genotyping data using the HumanCoreExome BeadChip (Illumina), High performance liquid chromatography, Kits precoated with the antibody to each hormone purchased from Mesoscale Discovery, OLINK, Shotgun Metagenomic DNA Sequencing, Specific gravity corrected concentrations (nanograms/ml) of phthalate ester metabolites, Targeted liquid chromatography with tandem mass spectrometry (LC-MS/MS) assays, Targeted nuclear magnetic resonance (NMR) | Genome British Columbia, AllerGen Networks of Centres of Excellence, Canadian Institutes of Health Research (CIHR), Genome Canada |
| The Personalized OncoGenomics (POG) Program | HMC000101 | Precision Oncology, Cancer, Precision Medicine, Cancer Genomics | 1670 | cancer | Patients of all ages with advanced cancers diagnosed in British Columbia (BC), Canada | Tumour, Whole Blood | Genomics, Transcriptomics | RNA-seq, Whole Genome Sequencing (WGS) | Genome British Columbia, Terry Fox Research Institute, BC Cancer Foundation |