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Title: Locus Reference Genomic sequences: an improved basis for describing human DNA variants
Authors: Dalgleish, Raymond
Flicek, Paul
Cunningham, Fiona
Astashyn, Alex
Tully, Raymond E.
Proctor, Glenn
Chen, Yuan
McLaren, William M.
Larsson, Pontus
Vaughan, Brendan W.
Beroud, Christophe
Dobson, Glen
Lehvaslaiho, Heikki
Taschner, Peter E.M.
den Dunnen, Johan T.
Devereau, Andrew
Birney, Ewan
Brookes, Anthony J.
Maglott, Donna R.
First Published: 15-Apr-2010
Publisher: BioMed Central
Citation: Dalgleish R, et al.: Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2010, 2:24
Abstract: As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specific purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-file record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)- approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health. Further information can be found on the LRG web site (
DOI Link: 10.1186/gm145
ISSN: 1756-994X
Type: Article
Rights: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Description: This is the final publisher edited version of the paper published as Genome Medicine, 2010, 2 (24). This version was first published at, Doi: 10.1186/gm145.
Appears in Collections:Published Articles, Dept. of Genetics

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