Literature DB >> 32248568

Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database.

Fotios Kounelis1, Alexandros Kanterakis2,3, Andreas Kanavos1,3, Maria-Theodora Pandi3,4, Zoe Kordou3, Olivia Manusama5, Gerasimos Vonitsanos1,3, Theodora Katsila3, Evangelia-Eirini Tsermpini3, Volker M Lauschke6, Maria Koromina3, Peter J van der Spek4, George P Patrinos3,4,7,8.   

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.
© 2020 Wiley Periodicals, Inc.

Entities:  

Keywords:  allele frequencies; clinically relevant genomic variations; data visualization; genomic variation; pharmacogenomic biomarkers; population

Year:  2020        PMID: 32248568     DOI: 10.1002/humu.24018

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  5 in total

Review 1.  The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Molly Chapman; Katy Evans; Luisa Azevedo; Matthew Hayden; Sally Heywood; David S Millar; Andrew D Phillips; David N Cooper
Journal:  Hum Genet       Date:  2020-06-28       Impact factor: 4.132

Review 2.  Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Authors:  Yitian Zhou; Volker M Lauschke
Journal:  Hum Genet       Date:  2021-10-15       Impact factor: 5.881

3.  The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Authors:  Qingyang Xiao; Volker M Lauschke
Journal:  NPJ Genom Med       Date:  2021-06-02       Impact factor: 8.617

Review 4.  Genome-based therapeutic interventions for β-type hemoglobinopathies.

Authors:  Kariofyllis Karamperis; Maria T Tsoumpeli; Fotios Kounelis; Maria Koromina; Christina Mitropoulou; Catia Moutinho; George P Patrinos
Journal:  Hum Genomics       Date:  2021-06-05       Impact factor: 4.639

5.  Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.

Authors:  Belinda M Giardine; Philippe Joly; Serge Pissard; Henri Wajcman; David H K Chui; Ross C Hardison; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2021-01-08       Impact factor: 19.160

  5 in total

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