{"id":10781,"date":"2026-11-05T08:16:29","date_gmt":"2026-11-05T07:16:29","guid":{"rendered":"https:\/\/www.isciiibiobanksbiomodels.es\/?p=10781"},"modified":"2026-11-05T08:35:07","modified_gmt":"2026-11-05T07:35:07","slug":"launch-of-spanishsnp-a-new-interactive-web-platform-mapping-the-reference-genetic-profile-of-the-spanish-population","status":"publish","type":"post","link":"https:\/\/www.isciiibiobanksbiomodels.es\/en\/launch-of-spanishsnp-a-new-interactive-web-platform-mapping-the-reference-genetic-profile-of-the-spanish-population\/","title":{"rendered":"Launch of &#8216;SpanishSNP&#8217;: A New Interactive Web Platform Mapping the Reference Genetic Profile of the Spanish Population"},"content":{"rendered":"<div class=\"n6owBd awi2gc\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAICRAA\" data-complete=\"true\" data-processed=\"true\">\n<div data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAICxAA\" data-complete=\"true\" data-processed=\"true\">\n<p>During the recent IV Conference of the ISCIII R&amp;D&amp;I Support Platforms in Biomedicine and Health Sciences held in Vitoria, the official launch of <strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\" data-processed=\"true\">SpanishSNP<!--TgQPHd|||[]--><\/strong> (<a href=\"https:\/\/spanishsnp.usal.es\/\">https:\/\/spanishsnp.usal.es\/<\/a>) was announced. This new interactive web platform provides the scientific and biomedical community with direct, open access to the allele and genotype frequencies of more than 3,500 healthy individuals from the Spanish reference population collection of the National DNA Bank Carlos III (BNADN).<\/p>\n<p>This resource is the result of a collaborative effort between the BNADN and the National Genotyping Center (CeGen) within the project <em class=\"zhvwWe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\" data-processed=\"true\">&#8216;Creation of a genotyping database for the Spanish reference population&#8217;<\/em>, developed under the Platform for Biomolecular and Bioinformatic Resources (PRB2) of the ISCIII.<\/p>\n<p><strong>\ud83d\udd0d <strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\" data-processed=\"true\">What does SpanishSNP offer?<\/strong><\/strong><\/p>\n<ul>\n<li class=\"Z1qcYe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAIDhAB\" data-complete=\"true\" data-sae=\"\"><span class=\"iNqyIf\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\"><strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Broad representation:<!--TgQPHd|||[]--><\/strong> Data generated from samples of over 3,500 healthy donors, representing all autonomous communities in Spain.<!--TgQPHd|||[]--><\/span><!--TgQPHd|||[]--><\/li>\n<li class=\"Z1qcYe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAIDhAE\" data-complete=\"true\" data-sae=\"\"><span class=\"iNqyIf\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\"><strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Extensive genomic coverage:<!--TgQPHd|||[]--><\/strong> Includes 1,144,151 genetic variants (SNPs) consolidated after a rigorous quality control process applied to data obtained via high-density genotyping arrays (<em class=\"zhvwWe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Illumina Infinium Global Screening Array<!--TgQPHd|||[]--><\/em> and <em class=\"zhvwWe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">ThermoFisher Axiom Spain Biobank Array<!--TgQPHd|||[]--><\/em>).<!--TgQPHd|||[]--><\/span><!--TgQPHd|||[]--><\/li>\n<li class=\"Z1qcYe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAIDhAH\" data-complete=\"true\" data-sae=\"\"><span class=\"iNqyIf\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\"><strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Intuitive and flexible search:<!--TgQPHd|||[]--><\/strong> Allows users to filter data by SNP ID, genomic coordinates (chromosome and position), official gene symbol (HGNC), or associated phenotypes and diseases.<!--TgQPHd|||[]--><\/span><!--TgQPHd|||[]--><\/li>\n<li class=\"Z1qcYe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAIDhAK\" data-complete=\"true\" data-sae=\"\"><span class=\"iNqyIf\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\" aria-owns=\"action-menu-parent-container\"><strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Integrated functional annotation:<!--TgQPHd|||[]--><\/strong> Pulling from public databases, the platform provides cross-population allele frequencies, disease associations, biomedical publications, and predictions of alternative allele consequences on transcripts.<\/span><!--TgQPHd|||[]--><\/li>\n<li class=\"Z1qcYe\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-hveid=\"CAAIDhAN\" data-complete=\"true\" data-sae=\"\"><span class=\"iNqyIf\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\"><strong class=\"rQesXe MPyX\" data-sfc-cp=\"\" data-sfc-root=\"c\" data-complete=\"true\">Access to raw genotyping data:<!--TgQPHd|||[]--><\/strong> Individual raw genetic data files (<code class=\"KDcb0c\" dir=\"ltr\" data-sfc-root=\"c\" data-complete=\"true\" data-sae=\"\">.idat<!--TgQPHd|||[]--><\/code> for Illumina and <code class=\"KDcb0c\" dir=\"ltr\" data-sfc-root=\"c\" data-complete=\"true\" data-sae=\"\">.CEL<!--TgQPHd|||[]--><\/code> for ThermoFisher) are available for specific research projects, subject to evaluation and approval by both ethical and scientific committees.<\/span><\/li>\n<\/ul>\n<p>#Gen\u00f3mica #Bioinform\u00e1tica #Gen\u00e9tica #OpenScience #ISCIII #BNADN #CeGen #Salud #Biomedicina #SpanishSNP #Investigaci\u00f3nEspa\u00f1ola<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>During the recent IV Conference of the ISCIII R&amp;D&amp;I Support Platforms in Biomedicine and Health Sciences held in Vitoria, the official launch of SpanishSNP (https:\/\/spanishsnp.usal.es\/) was announced. 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