Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/32073
Title: Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Authors: MacArthur, J. A.
Morales, J.
Tully, R. E.
Astashyn, A.
Gil, L.
Bruford, E. A.
Larsson, P.
Flicek, P.
Dalgleish, Raymond
Maglott, D. R.
Cunningham, F.
First Published: 26-Nov-2013
Publisher: Oxford University Press (OUP)
Citation: Nucleic Acids Research, 2014, 42 (Database issue), pp. D873-D878
Abstract: Locus Reference Genomic (LRG; http://www.lrg-sequence.org/) records contain internationally recognized stable reference sequences designed specifically for reporting clinically relevant sequence variants. Each LRG is contained within a single file consisting of a stable 'fixed' section and a regularly updated 'updatable' section. The fixed section contains stable genomic DNA sequence for a genomic region, essential transcripts and proteins for variant reporting and an exon numbering system. The updatable section contains mapping information, annotation of all transcripts and overlapping genes in the region and legacy exon and amino acid numbering systems. LRGs provide a stable framework that is vital for reporting variants, according to Human Genome Variation Society (HGVS) conventions, in genomic DNA, transcript or protein coordinates. To enable translation of information between LRG and genomic coordinates, LRGs include mapping to the human genome assembly. LRGs are compiled and maintained by the National Center for Biotechnology Information (NCBI) and European Bioinformatics Institute (EBI). LRG reference sequences are selected in collaboration with the diagnostic and research communities, locus-specific database curators and mutation consortia. Currently >700 LRGs have been created, of which >400 are publicly available. The aim is to create an LRG for every locus with clinical implications.
DOI Link: 10.1093/nar/gkt1198
ISSN: 0305-1048
eISSN: 1362-4962
Links: http://nar.oxfordjournals.org/content/42/D1/D873
http://hdl.handle.net/2381/32073
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: © The Author(s) 2013. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Description: PMCID: PMC3965024 Supplementary Data are available at NAR online, including [18–25].
Appears in Collections:Published Articles, Dept. of Genetics

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