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. 2020 Oct 23;66(1):39–52. doi: 10.1038/s10038-020-00862-1

Table 1.

Large-scale cohort studies with genomic information

Project Description Website Country Reference
Human Genome Project (HGP) The Initial sequencing program of the human genome https://www.genome.gov/human-genome-project International [1]
International HapMap Project Study of the common pattern of human genetic variation using SNP array https://www.genome.gov/10001688/international-hapmap-project International [2]
1000 Genomes Project Determining the human genetic variation by means of whole-genome sequencing in population scale https://www.internationalgenome.org International [3]
Human Genome Diversity Project Biological samples and genetic data collection from different population groups throughout the world https://www.hagsc.org/hgdp/ International [8]
Simon Genome Diversity Project Whole-genome sequencing project of diverse human populations https://docs.cancergenomicscloud.org/v1.0/docs/simons-genome-diversity-project-sgdp-dataset International [9]
Genome Asia 100k WGS-based genome study of people in South and East Asia https://genomeasia100k.org/ International [10]
UK Biobank Biobank study involving 500,000 residents in the UK https://www.ukbiobank.ac.uk UK [11]
Genomics England WGS-based genome study of patient with rare disease and their families and cancer patients in England https://www.genomicsengland.co.uk/ UK [12]
FinnGen Nationwide biobank and genome cohort study in Finland https://www.finngen.fi/en Finnland [13]
Tohoku Medical Megabank Project Biobank and genome cohort study for local area (north-east region) in Japan https://www.megabank.tohoku.ac.jp/english Japan [14, 15]
Biobank Japan Nationwide patient-based biobank and genome cohort study in Japan https://biobankjp.org/english/index.html Japan [16]
Trans-Omics for Precision Medicine (TOPMed) A genomic medicine research project to perform omics analysis pre-existing cohort samples https://www.nhlbiwgs.org USA [17]
BioMe Biobank Electronic health record-linked biobank of patients from the Mount Sinai Healthcare System https://icahn.mssm.edu/research/ipm/programs/biome-biobank USA [18]
Michigan Genomics Initiative Electronic health record-linked biobank of patients from the University of Michigan Health System https://precisionhealth.umich.edu/our-research/michigangenomics/ USA [19]
BioVU Repository of DNA samples and genetic information in Vanderbilt University Medical Center https://victr.vumc.org/biovu-description/ USA [20]
DiscovEHR Electronic health record-linked genome study of participants in Geisinger’s MyCode Community Health Initiative http://www.discovehrshare.com/ USA [21]
eMERGE Consortium of biorepositories with electronic medical record systems and genomic information https://www.genome.gov/Funded-Programs-Projects/Electronic-Medical-Records-and-Genomics-Network-eMERGE USA [22]
Kaiser Permanente Research Bank Nationwide biobank collecting genetic information from a blood sample, medical record information, and survey data on lifestyle from seven areas of US https://researchbank.kaiserpermanente.org/ USA [23]
Million Veteran Program Genome cohort study and biobank of participants of the Department of Veterans Affairs (VA) health care system https://www.research.va.gov/mvp/ USA [24]
CARTaGENE Biobank study of 43,000 Québec residents https://www.cartagene.qc.ca/en/home Canada [25]
lifelines Multigenerational cohort study that includes over 167,000 participants from the northern population of the Netherlands https://www.lifelines.nl/ Netherlands [26]
Taiwan Biobank Nationwide biobank and genome cohort study of residents in Taiwan https://www.twbiobank.org.tw/test_en/index.php Taiwan [27]
China Kadoorie Biobank Genome cohort study of patients with chronic diseases in China https://www.ckbiobank.org/site/ China [28]