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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Locus Reference Genomic sequences: An improved basis for describing human DNA variants
Genome Medicine, Volume 2, No. 4, Article 24, Year 2010
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Description
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 specifi c purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-fi le 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 aff ecting human health. Further information can be found on the LRG web site (http://www.lrg-sequence.org).© 2010 Dalgleish et al.; licensee BioMed Central Ltd.
Authors & Co-Authors
Dalgleish, Raymond
United Kingdom, Leicester
University of Leicester
Flicek, Paul R.
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Cunningham, Fiona
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Astashyn, Alex
United States, Bethesda
National Library of Medicine Nlm
Tully, Raymond E.
United States, Bethesda
National Library of Medicine Nlm
Proctor, Glenn
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Chen, Yuan
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
McLaren, William M.
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Larsson, Pontus
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Vaughan, Brendan W.
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Beroud, Christophe
France, Paris
Inserm
Dobson, Glen
United Kingdom, London
St Mary's Hospital
Lehväslaiho, Heikki O.
Saudi Arabia, Thuwal
King Abdullah University of Science and Technology
Taschner, Peter E.M.
Netherlands, Leiden
Leids Universitair Medisch Centrum
den Dunnen, Johan T.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Devereau, Andrew
United Kingdom, London
St Mary's Hospital
Birney, Ewan
United Kingdom, Hinxton
Embl’s European Bioinformatics Institute
Brookes, Anthony J.
United Kingdom, Leicester
University of Leicester
Maglott, Donna R.
United States, Bethesda
National Library of Medicine Nlm
Statistics
Citations: 19
Authors: 19
Affiliations: 7
Identifiers
Doi:
10.1186/gm145
e-ISSN:
1756994X
Research Areas
Cancer
Genetics And Genomics