Road to FAIR genomes:A gap analysis of NGS data generation and sharing in the Netherlands

Objective This study investigates current standards and operational gaps in the management and sharing of next generation sequencing (NGS) data within the healthcare and research setting and according to Findable, Accessible, Interoperable and Reusable (FAIR) principles. Methods The analysis was performed as the basis from which to bridge identified gaps and develop widely accepted working standards that ensure optimal reusability of genomic data in healthcare and research settings in the Netherlands. This work is part of the Rational Pharmacotherapy Program' led by ZonMw, The Netherlands Orga... Mehr ...

Verfasser: Belien, Jeroen A.M.
Kip, Anke E.
Swertz, Morris A.
Dokumenttyp: Artikel
Erscheinungsdatum: 2022
Reihe/Periodikum: Belien , J A M , Kip , A E & Swertz , M A 2022 , ' Road to FAIR genomes : A gap analysis of NGS data generation and sharing in the Netherlands ' , BMJ Open Science , vol. 6 , no. 1 , e100268 . https://doi.org/10.1136/bmjos-2021-100268
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29216457
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://research.vumc.nl/en/publications/e2e4f508-9f58-4325-ac53-74373c74ac6d

Objective This study investigates current standards and operational gaps in the management and sharing of next generation sequencing (NGS) data within the healthcare and research setting and according to Findable, Accessible, Interoperable and Reusable (FAIR) principles. Methods The analysis was performed as the basis from which to bridge identified gaps and develop widely accepted working standards that ensure optimal reusability of genomic data in healthcare and research settings in the Netherlands. This work is part of the Rational Pharmacotherapy Program' led by ZonMw, The Netherlands Organisation for Health Research and Development, which aims to promote the efficient implementation of NGS and personalised medicine within Dutch healthcare, with an initial focus on oncology and rare diseases. Results Based on this analysis and as part of this programme, a consortium was formed to develop an instruction manual for FAIR genomic data in clinical care and research based on an inventory of commonly used workflows and standards in the (inter)national field of genome analysis. Conclusions The gap analysis presented and discussed in this paper represents the starting point for this inventory and is a possible contribution from the Netherlands to the European 1+ Million Genomes Initiative. This paper addresses the topics of data generation, data quality, (meta)data standards, data storage and archiving and data integration and exchange.