| Validation of Cured Heart Failure Biomarkers | HMC000044 | proteomics, microarrays, biomarkers, heart failure, diagnosis, heart function recovery | 39 | heart disease, end-stage organ failure, heart transplant | Stable Heart Function, Unstable Heart Function | Plasma, Serum, Whole Blood | Proteomics, Transcriptomics | Expression Profiling by Array (Affymetrix HG U133 plus 2), Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS) | Canadian Institutes of Health Research (CIHR), PROOF Centre of Excellence |
| 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 |
| Blood single-cell RNA sequencing of fibrotic interstitial lung disease subtypes | HMC000047 | interstitial lung disease, single cell sequencing, biomarkers | 32 | interstitial lung disease | Idiopathic pulmonary fibrosis (IPF), Unclassifiable interstitial lung disease (ILD), Interstitial pneumonia with autoimmune features (IPAF), Systemic sclerosis-associated ILD (SSc-ILD), Hypersensitivity pneumonitis (HP) | White Blood Cells | Transcriptomics | RNA-seq | Genome British Columbia |
| Better Biomarkers For Transplantation | HMC000048 | cardiac transplant, renal transplant, liver transplant, acute rejection, chronic rejection, diagnostic, prognostic, biomarkers | 767 | heart transplant, kidney transplant, liver transplant, end-stage organ failure | Solid organ transplant recipients | Buffy Coat, Heart biopsy, Kidney biopsy, Liver biopsy, Plasma, Serum, Urine, Whole Blood | Metabolomics, Proteomics, Transcriptomics | Expression Profiling by Array (Affymetrix HG U133 plus 2), Expression profiling by array (Affymetrix HU Gene 1.1 ST), Isobaric tag for relative and absolute quantitation (iTRAQ), Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS), Nuclear Magnetic Resonance spectroscopy (NMR) | Genome British Columbia, St. Paul's Hospital Foundation, Astellas, IBM, Novartis Pharma, Genome Canada |
| 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 |
| Diagnostic Biomarkers for Improved Heart Failure Management | HMC000050 | proteomics, transciptiomics, diastolic heart failure, systolic heart failure, preserved ejection fraction, reduced ejection fraction, biomarkers | 261 | diastolic heart failure, systolic heart failure | Heart Failure, Controls | Buffy Coat, Plasma, Serum, Urine, Whole Blood | Proteomics, Transcriptomics | Expression profiling by array (Affymetrix HU Gene 1.1 ST), Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS) | Mitacs, PROOF Centre of Excellence |
| Biomarker Discovery in Acute Heart Failure | HMC000051 | proteomics, transciptiomics, acute heart failure, biomarkers, mechanical circulatory support, ventricular assist device | 13 | acute heart failure | Acute heart failure | Buffy Coat, Plasma, Serum, Urine, Whole Blood | Proteomics | Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS) | PROOF Centre of Excellence |
| Clinical Implementation of Diagnostic Biomarker Assays in Heart and Kidney Transplantation | HMC000052 | heart transplantation, kidney transplantation, proteomics, transcriptomics, acute rejection, diagnosis, prognosis, biomarkers | 692 | heart transplant, kidney transplant, end-stage organ failure | Organ transplant recipients, Non-transplant controls | Buffy Coat, Heart biopsy, Plasma, Serum, Whole Blood | Proteomics, Transcriptomics | Expression Profiling by Array (Affymetrix HG U133 plus 2), Expression profiling by array (Affymetrix HU Gene 1.1 ST), Multiple Reaction Monitoring (MRM) with Mass Spectrometry (MS) | Genome British Columbia, Canada Foundation for Innovation, PROOF Centre of Excellence, Mitacs, Genome Canada |
| DNA Methylation Analysis Of A Subset Of Children From The Canadian Asthma Primary Prevention Study | HMC000054 | Asthma, DNA methylation | 632 | allergic disease, asthma | Children with DNA methylation data, Mothers with DNA methylation data | Cord Blood, Whole Blood | Epigenomics | Targeted DNA methylation Sequencing: Illumina TruSeq Methyl Capture EPIC sequencing library | Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC) |
| Epigenomic Dynamics of Facioscapulohumeral Muscular Dystrophy (FSHD) | HMC000058 | FSHD, muscle disorder, epigenomics | 2 | facioscapulohumeral muscular dystrophy | Cell line '54-6' - Myogenic Cells - Healthy, Cell line 'K8' - Fibro-Adipogenic Progenitor Cells - FSHD1, Cell line 'K4' - Myogenic Cells - Healthy, Cell line '54-12' - Fibro-Adipogenic Progenitor Cells - FSHD1 | In vitro differentiated myotube | Epigenomics, 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), RNA-seq | SOLVE-FSHD |
| Epigenetic and Transcriptional Profiling of Adult and Neonatal Naive CD4+ T Cells | HMC000059 | epigenetic, T cell, immune system, cord blood, PBMC | 6 | healthy | Adult Naive CD4+ T cells (n=3), Neonatal Naive CD4+ T cells (n=3) | Purified Immune Cells (T Cells) | Epigenomics, Transcriptomics | ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (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), RNA-seq | Genome British Columbia, Canadian Institutes of Health Research (CIHR), Genome Canada |
| Epigenomic Profiling of Normal Human Breast Mammary Tissue Derived From Reduction Mammoplasties | HMC000060 | epigenetics, epigenomics, breast, mammary | 8 | healthy | Normal Breast Tissue | Breast | Epigenomics, Transcriptomics | ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (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), RNA-seq | Genome Canada, Canadian Institutes of Health Research (CIHR) |
| 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 |
| Epigenomic Programming in Early Fetal Brain Development | HMC000063 | fetal brain, twins, epigenomics, epigenetic, neurospheres | 4 | healthy | | Brain, Neurospheres | Epigenomics, Transcriptomics | ChIP-seq for H3K27me3 (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), MRE-seq, MeDIP, MicroRNA-seq, RNA-seq | Genome British Columbia, NIH, Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC), Canadian Institutes of Health Research (CIHR) |
| Hypopharyngeal Head and Neck Squamous Cell Carcinoma (HNSCC) Gene Expression Profiling | HMC000064 | oncogenomics, HNSCC, hypopharyngeal cancer | 187 | cancer, head and neck squamous cell carcinoma | Hypopharyngeal tumours, Normal uvula | Hypopharynx, Uvula | Transcriptomics | Expression Profiling by Array (Affymetrix HG-U95Av2) | Centre National de la Recherche Scientifique (CNRS), Fondation pour la Recherche Médicale , European Union (FP5), Hôpital Universitaire de Strasbourg |
| 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 |
| British Columbia Retrospective Cohort of Hypertrophic Cardiomyopathy Patients | HMC000066 | cardiology; single-nucleus RNA-seq; cardiac imaging | 1350 | hypertrophic cardiomyopathy | Retrospective with CMR (942), Septal Myectomy | Heart, Septal myectomy, Serum | Radiomics, Transcriptomics | Cardiac Magnetic Resonance (CMR) imaging, single-nucleus RNA-seq | Genome British Columbia |
| British Columbia Prospective Cohort of Hypertrophic Cardiomyopathy Patients (HiRO-HCM) | HMC000067 | cardiology; single-nucleus RNA-seq; cardiac imaging | 382 | hypertrophic cardiomyopathy | Septal Myectomy, British Columbia HiRO-HCM with CMR | Heart, Septal myectomy, Serum | Radiomics, Transcriptomics | Cardiac Magnetic Resonance (CMR) imaging, single-nucleus RNA-seq | Genome British Columbia |
| 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 |
| Epigenetic Profiling of Human Normal Hematopoietic Stem Cells from Umbilical Cord Blood | HMC000078 | umbilical cord blood, fetal blood, primary cells, stem cells, epigenomics, bivalent promoter, nucleosome density | 6 | normal | Normal Umbilical Cord Blood Cells | Purified common myeloid progenitor (CMP) cells, Purified cord blood CD34+CD38- cells, Purified erythroid cells, Purified granulocyte-monocyte progenitor (GMP) cells, Purified megakaryocyte-erythrocyte progenitor (MEP) cells, Purified monocyte cells | Epigenomics, Transcriptomics | ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (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), RNA-seq | Genome British Columbia, Terry Fox Research Institute, Canadian Institutes of Health Research (CIHR) |
| Dysferlinopathy | HMC000086 | limb-girdle muscular dystrophy 2B, LGMD2b, limb girdle muscular dystrophy type R2, LGMDR2, Miyoshi Myopathy type 1, MMD1, dysferlinopathy | 75 | autosomal recessive limb-girdle muscular dystrophy type 2B, dysferlinopathy, limb-girdle muscular dystrophy | Limb-girdle muscular dystrophy 2B, Validation cohort from COS study, healthy age-matched controls | Plasma, Whole Blood | Proteomics, Transcriptomics | Affymetrix GeneChip miRNA 3.1, Expression Profiling by Array (Affymetrix HG U133 plus 2), Isobaric tag for relative and absolute quantitation (iTRAQ) | Jain Foundation |
| Epigenetic Profiling of Human Acute Myeloid Leukemia Primary Samples | HMC000091 | AML, epigenomics, cancer, leukemia, bone marrow | 9 | acute myeloid leukemia | Acute Myeloid Leukemia (AML) | Bone Marrow Mononuclear Cells | Epigenomics, Transcriptomics | ChIP-seq for H3K27ac (histone modification), ChIP-seq for H3K27me3 (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), RNA-seq | Genome Canada, Terry Fox Research Institute, Canadian Institutes of Health Research (CIHR) |
| 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 |
| International Clinical Outcome Study for Dysferlinopathy (Jain COS 1) | HMC000089 | limb-girdle muscular dystrophy 2B, LGMD2b, limb girdle muscular dystrophy type R2, LGMDR2, Miyoshi Myopathy type 1, MMD1, dysferlinopathy | 187 | autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi Myopathy type 1 (MM1), Autosomal recessive limb-girdle muscular dystrophy type R2 dysferlin related (LGMDR2) , dysferlinopathy | dysferlinopathy | DNA, Plasma, RNA, Serum, Skin fibroblasts | | | Jain Foundation |
| HEARTBiT: A Multi-Marker Blood Test for Acute Cardiac Transplant Rejection | HMC000053 | heart transplantation, acute cellular rejection, monitoring, biomarkers | 166 | heart transplant | Heart transplant patients, Controls | Buffy Coat, Plasma, Serum, Whole Blood | | | Canadian Institutes of Health Research (CIHR) |