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.
Nucleic Acids Res. 2014 Jan;42(Database issue):D873-8. doi: 10.1093/nar/gkt1198. Epub 2013 Nov 26.
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.
定位参考基因组 (LRG; http://www.lrg-sequence.org/) 记录包含国际公认的稳定参考序列，专门设计用于报告临床相关的序列变异。每个 LRG 都包含在一个单一的文件中，该文件由一个稳定的“固定”部分和一个定期更新的“可更新”部分组成。固定部分包含基因组区域的稳定基因组 DNA 序列、用于变异报告的必要转录本和蛋白质以及外显子编号系统。可更新部分包含映射信息、该区域中所有转录本和重叠基因的注释以及遗留的外显子和氨基酸编号系统。LRG 提供了一个稳定的框架，根据人类基因组变异协会 (HGVS) 公约，对于报告基因组 DNA、转录本或蛋白质坐标中的变异至关重要。为了在 LRG 和基因组坐标之间实现信息的转换，LRG 包括对人类基因组组装的映射。LRG 由国家生物技术信息中心 (NCBI) 和欧洲生物信息学研究所 (EBI) 编译和维护。LRG 参考序列是与诊断和研究社区、特定于基因座的数据库管理员和突变联盟合作选择的。目前已经创建了超过 700 个 LRG，其中超过 400 个是公开可用的。目标是为每个具有临床意义的基因座创建一个 LRG。
