DNA samples were genotyped at the Spanish National Genotyping Center (CeGen-PRB3-ISCIII; Santiago de Compostela, Spain), using the Axiom™ Spain Biobank array and strictly following the manufacturer’s instructions (Axiom™ 2.0 Assay 96-Array Format Manual Workflow; ThermoFisher Scientific). Briefly, total genomic DNA (200 ng) was amplified and randomly fragmented into 25 to 125 base pair fragments, which were then purified and resuspended in a hybridization cocktail. The hyb-ready targets were then transferred to the GeneTitan Multichannel Instrument for automated, hands-free processing (including hybridization to Axiom array plates, staining, washing and imaging). CEL files were automatically processed for allele calling using the Axiom GT1 algorithm available through the Axiom Analysis Suite v4.0.3.3 and following the Axiom™ Genotyping Solution Data Analysis User Guide (ThermoFisher Scientific, Waltham, MA, USA).
Axiom spain biobank array
The Axiom Spain Biobank Array is a high-density genotyping microarray designed for population-based genetic studies. It provides comprehensive genome-wide coverage with over 700,000 markers, enabling robust and cost-effective genotyping of large cohorts. The array is optimized for the Spanish population, making it a valuable tool for researchers studying genetic diversity and disease associations within this genetic background.
4 protocols using axiom spain biobank array
DNA Genotyping from Peripheral Blood
DNA samples were genotyped at the Spanish National Genotyping Center (CeGen-PRB3-ISCIII; Santiago de Compostela, Spain), using the Axiom™ Spain Biobank array and strictly following the manufacturer’s instructions (Axiom™ 2.0 Assay 96-Array Format Manual Workflow; ThermoFisher Scientific). Briefly, total genomic DNA (200 ng) was amplified and randomly fragmented into 25 to 125 base pair fragments, which were then purified and resuspended in a hybridization cocktail. The hyb-ready targets were then transferred to the GeneTitan Multichannel Instrument for automated, hands-free processing (including hybridization to Axiom array plates, staining, washing and imaging). CEL files were automatically processed for allele calling using the Axiom GT1 algorithm available through the Axiom Analysis Suite v4.0.3.3 and following the Axiom™ Genotyping Solution Data Analysis User Guide (ThermoFisher Scientific, Waltham, MA, USA).
Spanish Population Genomic DNA Genotyping
For the second phase study samples, a total of 250 ng of DNA was processed according to the Infinium HTS assay Protocol (Part # 15045738 Rev. A, Illumina), including amplification, fragmentation and hybridization using the Global Screening Array Multi-disease v3.0. This array contains a total of 730 059 markers and was scanned on an iScan platform (Illumina, Inc.). Clustering and genotype calling were performed using Genome Studio v2.0.4 (Illumina, Inc.).
Genetic Ancestry Analysis via PCA
Ancestry Inference via Genetic PCA
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