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GCAT | Genomes for life: cohort study of the genomes of Catalonia

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. A 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. Future 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. http://dx.doi.org/10.1136/bmjopen-2017-018324

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001007729 19329
EGAD00001007730 4988
EGAD00001007731 17155
EGAD00001007774 785
EGAD00001008201 Illumina HiSeq 4000 808
EGAD00001008202 808
EGAD00001008210 785
EGAD00010001664 Illumina-Genotyping Array 4988
EGAD00010001665 Illumina-Genotyping Array 4988
EGAD00010002152 Illumina HiSeq 4000 785
EGAD00010002153 Illumina HiSeq 4000 785
Publications Citations
GCAT|Genomes for life: a prospective cohort study of the genomes of Catalonia.
BMJ Open 8: 2018 e018324
17
GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Nucleic Acids Res 50: 2022 2464-2479
4
Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition.
Sci Rep 12: 2022 20708
0
Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Genes (Basel) 14: 2023 149
1