FINDbase worldwide is an online resource documenting frequencies of clinically relevant genomic variants, namely pathogenic variants leading to inherited disorders and pharmacogenomic biomarkers, in various populations worldwide. The initial data came from previously published reports as well as from unpublished information contributed from individual researchers prior of publication.
FINDbase has a long history, being established in 2006 and upgraded twice since its initial development, namely in 2010 and in 2018, while it has undergone several rounds of data update and enrichment. This information is available in two separate modules, namely Causative Genomic Variants and Pharmacogenomic Biomarkers.
There are two different versions of FINDbase: (a) Public version, in which there are no registration requirements for data querying and access and (b) Private version, where a significantly more enriched data content is available only to those researchers and academics that have tangibly contributed to FINDbase data content.
The querying interface has been recently upgraded to deliver data output in a tabular format much faster than in previous versions, useful for querying large datasets in multiple ways. The whole application provides an elegant, web-based multimedia interface for population-based variation data collection and retrieval. All entries are recorded against their unique PubMed and ResearcherIDs.
All FINDbase data records comply both with the official Human Genome Variation Society nomenclature guidelines as well as the recommendations for genetic variation data capture, especially for developing countries.
Citing this resource
Kounelis F, Kanterakis A, Kanavos A, Pandi MT, Kordou Z, Manusama O, Vonitsanos G, Katsila T, Tsermpini EE, Lauschke VM, Koromina M, van der Spek PJ, Patrinos GP Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database Human Mutation. 2020; 41: 1112–1122
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