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Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database.
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.
Afiliação
  • Kounelis F; Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, Patras, Greece.
  • Kanterakis A; Biomedical Informatics Laboratory, Foundation of Research and Technology Hellas, Heraklion, Greece.
  • Kanavos A; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Pandi MT; Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, Patras, Greece.
  • Kordou Z; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Manusama O; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Vonitsanos G; Bioinformatics Unit, Department of Pathology, Faculty of Medicine and Health Sciences, Medical Center, Erasmus University, Rotterdam, The Netherlands.
  • Katsila T; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Tsermpini EE; Department of Immunology, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Lauschke VM; Department of Computer Engineering and Informatics, Faculty of Engineering, University of Patras, Patras, Greece.
  • Koromina M; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • van der Spek PJ; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
  • Patrinos GP; Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.
Hum Mutat ; 41(6): 1112-1122, 2020 06.
Article em En | MEDLINE | ID: mdl-32248568
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Bases de Dados Genéticas / Frequência do Gene Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Grécia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / Bases de Dados Genéticas / Frequência do Gene Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Grécia