During the recent IV Conference of the ISCIII R&D&I Support Platforms in Biomedicine and Health Sciences held in Vitoria, the official launch of SpanishSNP (https://spanishsnp.usal.es/) 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).
This resource is the result of a collaborative effort between the BNADN and the National Genotyping Center (CeGen) within the project ‘Creation of a genotyping database for the Spanish reference population’, developed under the Platform for Biomolecular and Bioinformatic Resources (PRB2) of the ISCIII.
🔍 What does SpanishSNP offer?
- Broad representation: Data generated from samples of over 3,500 healthy donors, representing all autonomous communities in Spain.
- Extensive genomic coverage: Includes 1,144,151 genetic variants (SNPs) consolidated after a rigorous quality control process applied to data obtained via high-density genotyping arrays (Illumina Infinium Global Screening Array and ThermoFisher Axiom Spain Biobank Array).
- Intuitive and flexible search: Allows users to filter data by SNP ID, genomic coordinates (chromosome and position), official gene symbol (HGNC), or associated phenotypes and diseases.
- Integrated functional annotation: Pulling from public databases, the platform provides cross-population allele frequencies, disease associations, biomedical publications, and predictions of alternative allele consequences on transcripts.
- Access to raw genotyping data: Individual raw genetic data files (
.idatfor Illumina and.CELfor ThermoFisher) are available for specific research projects, subject to evaluation and approval by both ethical and scientific committees.
#Genómica #Bioinformática #Genética #OpenScience #ISCIII #BNADN #CeGen #Salud #Biomedicina #SpanishSNP #InvestigaciónEspañola