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Axiom spain biobank array

Manufactured by Thermo Fisher Scientific
Sourced in Spain

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.

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4 protocols using axiom spain biobank array

1

DNA Genotyping from Peripheral Blood

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DNA was isolated from 200 µL aliquots of peripheral blood using commercially available column-based kits, following manufacturer instructions. DNA was quantitated by both Nanodrop and Qubit dsDNA BR Assay Kit (ThermoFisher, Waltham, MA, USA).
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).
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2

Spanish Population Genomic DNA Genotyping

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The discovery phase samples were genotyped with the Axiom Spain Biobank Array (Thermo Fisher Scientific) following the manufacturer’s instructions in the Santiago de Compostela Node of the National Genotyping Center (CeGen-ISCIII; http://www.usc.es/cegen). This array contains 757 836 markers, including rare variants selected in the Spanish population. Genomic DNA was obtained from peripheral blood and isolated using the Chemagic DNA Blood100 kit (PerkinElmer Chemagen Technologies GmbH), following the manufacturer’s recommendations.
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.).
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3

Genetic Ancestry Analysis via PCA

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Principal component analysis (PCA) based on the variance‐standardized relationship matrix was used to infer the ancestry of each patient and classify them as one of the selected ancestry groups (European, African, admixed American, and East Asian) using a set of 1000 genome samples (phase 3) as a reference population.6 For PCA, we used previously collected genetic data from our cohort17 obtained with Applied Biosystems Axiom Spain Biobank Array (COL32017 1217, Thermo Fisher Scientific Inc.), which contains 758,740 variants. PCA was performed using Plink software, version 1.9.21 Inferred patient ancestry was used to stratify our population into three groups: Europeans (n = 813), admixed Americans (n = 194), and others (n = 129).
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4

Ancestry Inference via Genetic PCA

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Principal component analysis (PCA) based on the variance-standardized relationship matrix was used to infer the ancestry of each patient and classify them as one of the selected ancestry groups (European, African, admixed American, and East Asian) using a set of 1000 genome samples (phase 3) as a reference population. For PCA, we used previously collected genetic data from our cohort (unpublished) obtained with the Applied Biosystems™ Axiom™ Spain Biobank Array (COL32017 1217, Thermo Fisher Scientific Inc.), which contains 758,740 variants. PCA was performed using Plink software version 1.948 (link).
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