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Updated: May 5, 2026

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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.

Jacqueline A L MacArthur1, Joannella Morales, Ray E Tully

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK, National Center for Biotechnology Information, Bethesda, MD 20894, USA, and Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.

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Summary
This summary is machine-generated.

Locus Reference Genomic (LRG) records provide stable reference sequences for reporting clinical variants. These records ensure accurate variant reporting using standardized Human Genome Variation Society (HGVS) conventions.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Clinically relevant sequence variant reporting requires stable genomic reference sequences.
  • Existing reference sequences can lack standardization for variant annotation.
  • The need for a unified system for reporting genetic variations is critical.

Purpose of the Study:

  • To introduce the Locus Reference Genomic (LRG) system.
  • To highlight the structure and utility of LRG records for variant reporting.
  • To emphasize the role of LRGs in standardizing genetic variant communication.

Main Methods:

  • LRG records are structured into stable 'fixed' and updatable 'updatable' sections.
  • The fixed section includes genomic DNA sequence, essential transcripts, proteins, and exon numbering.
  • The updatable section contains mapping, transcript annotations, and overlapping gene information.

Main Results:

  • LRG records offer a stable framework for reporting variants using Human Genome Variation Society (HGVS) conventions.
  • LRGs facilitate coordinate translation between LRG and genomic assemblies.
  • Over 700 LRGs have been created, with more than 400 publicly available.

Conclusions:

  • LRG records are essential for accurate and standardized reporting of clinically relevant sequence variants.
  • The LRG system, maintained by NCBI and EBI, supports the diagnostic and research communities.
  • The ongoing creation of LRGs aims to cover all clinically significant genetic loci.