Locus Reference Genomic sequences: An improved basis for describing human DNA variants
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ArticleKAUST Department
Computational Bioscience Research Center (CBRC)Date
2010-04-15Online Publication Date
2010-04-15Print Publication Date
2010Permanent link to this record
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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.Citation
Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, et al. (2010) Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2: 24. doi:10.1186/gm145.Publisher
Springer NatureJournal
Genome MedicineDOI
10.1186/gm145PubMed ID
20398331PubMed Central ID
PMC2873802Scopus Count
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