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FAIR Header Reference genome: a TRUSTworthy standard.

Adam WrightMark D WilkinsonChristopher John MungallScott CainStephen RichardsPaul W SternbergEllen ProvinJonathan L JacobsScott M GeibDaniela RacitiKaren YookLincoln D SteinDavid C Molik
Published in: Briefings in bioinformatics (2024)
The lack of interoperable data standards among reference genome data-sharing platforms inhibits cross-platform analysis while increasing the risk of data provenance loss. Here, we describe the FAIR bioHeaders Reference genome (FHR), a metadata standard guided by the principles of Findability, Accessibility, Interoperability and Reuse (FAIR) in addition to the principles of Transparency, Responsibility, User focus, Sustainability and Technology. The objective of FHR is to provide an extensive set of data serialisation methods and minimum data field requirements while still maintaining extensibility, flexibility and expressivity in an increasingly decentralised genomic data ecosystem. The effort needed to implement FHR is low; FHR's design philosophy ensures easy implementation while retaining the benefits gained from recording both machine and human-readable provenance.
Keyphrases
  • electronic health record
  • big data
  • primary care
  • data analysis
  • gene expression
  • dna methylation
  • machine learning
  • climate change
  • social media
  • quality improvement