Refget: standardised access to reference sequences.
Ontology highlight
ABSTRACT: Motivation
Reference sequences are essential in creating a baseline of knowledge for many common bioinformatics methods, especially those using genomic sequencing.Results
We have created refget, a Global Alliance for Genomics and Health API specification to access reference sequences and sub-sequences using an identifier derived from the sequence itself. We present four reference implementations across in-house and cloud infrastructure, a compliance suite and a web report used to ensure specification conformity across implementations.Availability
The Refget specification can be found at: https://w3id.org/ga4gh/refget.Supplementary information
Supplementary data are available at Bioinformatics online.
SUBMITTER: Yates AD
PROVIDER: S-EPMC8696098 | biostudies-literature |
REPOSITORIES: biostudies-literature
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