Road to FAIR genomes: a gap analysis of NGS data generation and sharing in the Netherlands.
informatics
translational medical research
Journal
BMJ open science
ISSN: 2398-8703
Titre abrégé: BMJ Open Sci
Pays: England
ID NLM: 101778290
Informations de publication
Date de publication:
2022
2022
Historique:
received:
06
12
2021
accepted:
16
03
2022
entrez:
4
5
2022
pubmed:
5
5
2022
medline:
5
5
2022
Statut:
epublish
Résumé
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. 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. 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. 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.
Identifiants
pubmed: 35505836
doi: 10.1136/bmjos-2021-100268
pii: bmjos-2021-100268
pmc: PMC9014103
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e100268Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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