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Refget: standardized access to reference sequences.

Andrew D Yates1,2, Jeremy Adams2,3, Somesh Chaturvedi1,4

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

Bioinformatics (Oxford, England)
|July 14, 2021
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Summary
This summary is machine-generated.

We developed refget, a new API standard for accessing genomic reference sequences. This ensures consistent data retrieval for bioinformatics, improving genomic sequencing workflows.

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Area of Science:

  • Bioinformatics
  • Genomics
  • Data Standards

Background:

  • Reference sequences are foundational for bioinformatics, particularly in genomic sequencing.
  • Standardized access to these sequences is crucial for reproducible research and common bioinformatics methods.

Purpose of the Study:

  • To establish a standardized API specification for accessing reference sequences and sub-sequences.
  • To provide a robust framework for consistent data retrieval in genomics.

Main Methods:

  • Developed the refget API specification under the Global Alliance for Genomics and Health framework.
  • Created four reference implementations across diverse infrastructures (in-house and cloud).
  • Established a compliance suite and web report for verifying implementation conformity.

Main Results:

  • The refget specification provides a novel method for accessing reference sequences via sequence-derived identifiers.
  • Four compliant reference implementations demonstrate the specification's versatility and feasibility.
  • The compliance suite ensures interoperability and adherence to the standard.

Conclusions:

  • The refget specification offers a standardized and efficient way to access genomic reference data.
  • This standard facilitates reproducible bioinformatics analyses and advances genomic data sharing.