title: Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
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.
authors.affiliation: European 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.
authors.forename: Jacqueline A L
authors.initials: JA
authors.lastname: MacArthur
authors.forename: Joannella
authors.initials: J
authors.lastname: Morales
authors.forename: Ray E
authors.initials: RE
authors.lastname: Tully
authors.forename: Alex
authors.initials: A
authors.lastname: Astashyn
authors.forename: Laurent
authors.initials: L
authors.lastname: Gil
authors.forename: Elspeth A
authors.initials: EA
authors.lastname: Bruford
authors.forename: Pontus
authors.initials: P
authors.lastname: Larsson
authors.forename: Paul
authors.initials: P
authors.lastname: Flicek
authors.forename: Raymond
authors.initials: R
authors.lastname: Dalgleish
authors.forename: Donna R
authors.initials: DR
authors.lastname: Maglott
authors.forename: Fiona
authors.initials: F
authors.lastname: Cunningham
mesh_terms: D030541:Databases, Genetic; D005091:Exons; D056426:Genetic Loci; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000592:standards; D006801:Humans; D020407:Internet; D011506:Proteins / Q000235:genetics; D012333:RNA, Messenger / Q000737:chemistry; D012015:Reference Standards
chemical_list: D011506:Proteins; D012333:RNA, Messenger