{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Population Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001003018"],"host":["EGA"],"description":["EGA study EGAS00001003018"],"dataset_title":["GCAT| SNParray coreSpain V1","GCAT| SNParray coreSpain V2","GCAT| PCAs GCATcoreSpain V2","GCAT| WGS  VCF  QC Genotype V1","GCAT| Sex and Age","GCAT| ICD Disease Diagnoses","GCAT| WGS Structural Variants Catalog V1","GCAT| WGS VCF Raw Genotypes V1","GCAT| WGS FASTQ V1","GCAT| WGS Imputation Panel V1","GCAT| WGS BAM V1"],"repository":["EGA"],"category":["restricted"],"pubmed_abstract":["<h4>Purpose</h4>The prevalence of chronic non-communicable diseases (NCDs) is increasing worldwide. NCDs are the leading cause of both morbidity and mortality, and it is estimated that by 2030, they will be responsible for 80% of deaths across the world. The Genomes for Life (GCAT) project is a long-term prospective cohort study that was designed to integrate and assess the role of epidemiological, genomic and epigenomic factors in the development of major chronic diseases in Catalonia, a north-east region of Spain.<h4>Participants</h4>At the end of 2017, the GCAT Study will have recruited 20 000 participants aged 40-65 years. Participants who agreed to take part in the study completed a self-administered computer-driven questionnaire, and underwent blood pressure, cardiac frequency and anthropometry measurements. For each participant, blood plasma, blood serum and white blood cells are collected at baseline. The GCAT Study has access to the electronic health records of the Catalan Public Healthcare System. Participants will be followed biannually at least 20 years after recruitment.<h4>Findings to date</h4>Among all GCAT participants, 59.2% are women and 83.3% of the cohort identified themselves as Caucasian/white. More than half of the participants have higher education levels, 72.2% are current workers and 42.1% are classified as overweight (body mass index ≥25 and <30 kg/m<sup>2</sup>). We have genotyped 5459 participants, of which 5000 have metabolome data. Further, the whole genome of 808 participants will be sequenced by the end of 2017.<h4>Future plans</h4>The first follow-up study started in December 2017 and will end by March 2018. Residences of all subjects will be geocoded during the following year. Several genomic analyses are ongoing, and metabolomic and genomic integrations will be performed to identify underlying genetic variants, as well as environmental factors that influence metabolites."],"pubmed_title":["GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia."],"pubmed_authors":["Obón-Santacana Mireia M, Vilardell Mireia M, Carreras Anna A, Duran Xavier X, Velasco Juan J, Galván-Femenía Iván I, Alonso Teresa T, Puig Lluís L, Sumoy Lauro L, Duell Eric J EJ, Perucho Manuel M, Moreno Victor V, de Cid Rafael R"],"pubmed_title_synonyms":["Core Genome., study, Phosphatidylcholine-sterol acyltransferase, Pan-genome, lifespan, Aeromonas hydrophila, Genomes, entire lifespan, Core Genome, entire life cycle, GCAT, life, Accessory Genome, KBL, Pangenome"],"name_synonyms":["Core Genome., study, Phosphatidylcholine-sterol acyltransferase, Pan-genome, lifespan, Aeromonas hydrophila, Genomes, entire lifespan, Core Genome, entire life cycle, GCAT, life, Accessory Genome, KBL, Pangenome"],"pubmed_abstract_synonyms":["multinucleated neurons, single-organism developmental process, Activity, Period Prevalence, FON1, Blood, postnatal development, Design, Metabonomic, growth and development, CG4399, Metabonomics, Health Record, Profiles, Survey Methods, Serum, FLORAL ORGAN NUMBER 1, Literacy Program, Questionnaire Designs, ter, Case Fatality Rates, Calculators, Death Rates, Techniques, Point Prevalence, diseases, Abc8, Roles, Workshops, Body Mass, Survey Methodology, Point Prevalences, GCAT, SUP, symptoms, Concepts, diseases and disorders, Nonrespondents, Excess Mortalities, Infectious Diseases, Systolic, su(w[sp]), Randomized Response, hereditary., East, Metabolic Profiles, Fresh Frozen Plasmas, Fresh Frozen, human disease, Occidental, Genomes, Prevalences, Crude Mortality Rates, entire life cycle, Literacy, long, Bdr, Designs, anthropometric traits, Questionnaires, Super protein, Estimated, Workshop, sp, SNAP-25, genetic, geographical area, Respondents, Quetelet, Bsg75C, CFR Case Fatality Rate, Role Concepts, Homo sapiens disease, Age-Specific Death Rate, MARCH, renal dysplasia, plasma, cerebellar Hypoplasia, screening, Prevalence, Questionnaire, Frozen Plasma, Infectious Disease, PLATEST, Index, AW413978, Communicable Diseases, frequency, familial, Crude Death, Digital Computers, white, Blood Serum, Questionnaire Design, Plasmas, Girl, Crude Mortality, Programs, DmelCG4399, Communicable Disease, Program, Mortality, Role Concept, Aeromonas hydrophila, Term, European, Quetelet's Index, Diseases, Role, Corpuscles, GENA70, END, Electronic Health Records, Caucasians, Computers, Blood Cell, portion of blood plasma, positional polypeptide feature, death rate, training, Communicable, life, anon-WO03040301.224, follow up, Nonrespondent, signs, Mortalities, whole genome, Educational Activities, Hardware, Survey Method, surveillance, morbidity, Activities, disease, Corpuscle, blood plasm, Mortality Rate, Crude Death Rate, Computerized Medical Record, Medical Records, Literacy Programs, Digital Computer, Cells, Surveys, 2018, White, inherited genetic, Blood Corpuscles, Mortality Determinant, Programmable Calculator, Platelets, Elderly, Community, FLORAL DEFECTIVE 10, Fresh, l(1)G0014, other disease, Pulse Pressure, lifespan, Balearic Islands, Fresh Frozen Plasma, region or site annotation, Mortality Declines, Programmable, Training, Excess, Period Prevalences, SUPERMAN, Crude Mortality Rate, Computer, mortality measurement, Diastolic Pressure, Age-Specific Death, Mortality Determinants, Crude, Rate, Determinant, Caucasian, Baseline, Core Genome, Girls, Community Survey, Baseline Surveys, disease or disorder, Case Fatality, Survey, Randomized, Randomized Response Techniques, Metabolomic, Blood Corpuscle, Metabolic Profile, Quetelet Index, Differential Mortality, study, positional, Methodology, Blood Plasma, Excess Mortality, anatomical systems, teaching, occurrence, entire lifespan, Metabolomes, Profile, 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Program, Community Surveys, Plasma, Rates, Response Techniques, Electronic Medical Records, Phosphatidylcholine-sterol acyltransferase, Electronic Medical Record, Death Rate, Systolic Pressure, Digital, Metabolic, Programmable Calculators, Response Technique, Women's Groups, postnatal growth, CG4216, KBL, portion of plasma, FLO10, Calculator, Age-Specific Death Rates, HERP, endemics, EAST, primary structure of sequence macromolecule, Baseline Survey, Differential, Quetelets Index, Pan-genome, Pulse, Pressures, Whites, Point, SNAP, anhydramnios, Decline, epidemics, EG:133E12.4, ORW1, growth, Serums, Differential Mortalities, and hydranencephaly"],"description_synonyms":["Bru, multinucleated neurons, Raw, Activity, determination, Laboratory, Blood, Design, Metabonomic, atado, Metabonomics, Survey Methods, Serum, CG30327, NK/GPI., Questionnaire Designs, 1B1, Mutations, Calculators, CG11478, anon-EST:Posey9, Techniques, Abc8, Survey Methodology, GCAT, Nonrespondents, Analysis, Research 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hereditary, Serums, Data Analyses, and hydranencephaly, MAK3"],"additional_accession":[]},"is_claimable":false,"name":"GCAT | Genomes for life:  cohort study of the genomes of Catalonia","description":"The GCAT Study have recruited 20 000 participants aged 40–65 years. Participants who agreed to take part in the study completed a self-administered computer-driven questionnaire, and underwent blood pressure, cardiac frequency and anthropometry measurements. For each participant, blood plasma, blood serum and white blood cells are collected at baseline. \n\nA total of 5459  genomic profiles have been characterised by comprehensive genotyping. Genome-wide genotypes have been generated using Illumina Infinium SNP-bead array technology. We chose the Multi-Ethnic Global (MEGAEX, V.2) consortium array, a multipurpose, multiethnic  genotyping array with two million selected markers (including previously described germline mutations, insertions-deletions (InDels) and SNPs).We have strictly followed the standard manufacturer recommended automated protocol for the Infinium HTS Assay scanned with a HiScan confocal scanner (Illumina, San Diego, California, USA). Genome Studio V.2011.1 has been used for raw data analysis. Genotyping was performed at the Genomics and Bioinformatics Unit of the PMPPC Institute for Health Science Research Germans Trias i Pujol, in Badalona, Spain.\n\nFuture plans The first follow-up study started in December 2017 and will end by March 2018. Residences of all subjects will be geocoded during the following year. Several genomic analyses are ongoing, and metabolomic and genomic integrations will be performed to identify underlying genetic variants, as well as environmental factors that influence metabolites.\n\nhttp://dx.doi.org/10.1136/bmjopen-2017-018324","dates":{"updated":"2021-12-24 11:15:45"},"accession":"EGAS00001003018","cross_references":{"TAXONOMY":["9606"],"pubmed":["29593016"],"EGA":["EGAD00010002152","EGAD00001007729","EGAD00001008201","EGAD00001007730","EGAD00001007731","EGAD00001007774","EGAD00001008210","EGAD00010002153","EGAD00001008202","EGAD00010001664","EGAD00010001665","EGAC00001000940"]}}