Taming the reference genome jungle: the refget sequence collection standard

Abstract excerpt

Reference genomes are foundational to genomics but suffer from widespread ambiguity and incompatibility due to inconsistent naming, undocumented differences, and lack of formal mechanisms for comparison. To address this, we introduce the GA4GH refget Sequence Collections (seqcol) standard. Refget seqcol is a framework for unambiguous representation, retrieval, and comparison of sequence collections such as referen...

Topics

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• Algorithms
• Genome, Bacterial
• Genomics
• High-Throughput Nucleotide Sequencing
• Nanopore Sequencing
• Nucleotides
• Sequence Alignment
• Software

Identifiers and source

Literature Corpus work

900baf35-ede9-557b-b467-d3e6cc87ca47

DOI

10.1101/2025.10.06.680641