Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database. Issue 6 (14th April 2020)

• Record Type: Journal Article
• Authors: Kounelis, Fotios; Kanterakis, Alexandros; Kanavos, Andreas; Pandi, Maria‐Theodora; Kordou, Zoe; Manusama, Olivia; Vonitsanos, Gerasimos; Katsila, Theodora; Tsermpini, Evangelia‐Eirini; Lauschke, Volker M.; Koromina, Maria; van der Spek, Peter J.; Patrinos, George P.
• Is Part Of: Human mutation. Volume 41:Issue 6(2020)
• Page Start: 1112
• Page End: 1122
• Publication Date: 2020-04-14
• Subjects: allele frequencies -- clinically relevant genomic variations -- data visualization -- genomic variation -- pharmacogenomic biomarkers -- population; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24018
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: FINDbase (http://www.findbase.org ) is a comprehensive data resource recording the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants underlying genetic disorders as well as pharmacogenomic biomarkers that can guide drug treatment. Here, we report significant new developments and technological advancements in the database architecture, leading to a completely revamped database structure, querying interface, accompanied with substantial extensions of data content and curation. In particular, the FINDbase upgrade further improves the user experience by introducing responsive features that support a wide variety of mobile and stationary devices, while enhancing computational runtime due to the use of a modern Javascript framework such as ReactJS. Data collection is significantly enriched, with the data records being divided in a Public and Private version, the latter being accessed on the basis of data contribution, according to the microattribution approach, while the front end was redesigned to support the new functionalities and querying tools. The abovementioned updates further enhance the impact of FINDbase, improve the overall user experience, facilitate further data sharing by microattribution, and strengthen the role of FINDbase as a key resource for personalized medicine applications and personalized public health. Abstract : FINDbase is a comprehensive data resource recording the prevalence of clinically relevant genomic variants in various populations worldwide. Data collection includes pathogenic variants underlying genetic disorders and pharmacogenomic biomarkers that guide drug treatment. The current FINDbase upgrade further improves the user experience by introducing responsive features that support a wide variety of mobile and stationary devices and enhances computational runtime.