Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
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DOI：
10.1093/nar/gkt1198
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发表时间：
2014-01
影响因子：
14.9
通讯作者：
Cunningham F
中科院分区：
文献类型：
--
作者：
MacArthur JA;Morales J;Tully RE;Astashyn A;Gil L;Bruford EA;Larsson P;Flicek P;Dalgleish R;Maglott DR;Cunningham F
基因座参考基因组（LRG; http://www.lrg-sequence.org/）记录包含国际公认的稳定参考序列，专为报告临床相关序列变异而设计。每个LRG都包含在一个文件中，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，变异报告所需的转录本和蛋白质以及外显子编号系统。可更新的部分包含映射信息，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。根据人类基因组变异学会（HGVS）的惯例，LRGs为报告基因组DNA、转录物或蛋白质坐标中的变异提供了一个稳定的框架，这对报告变异至关重要。为了实现LRG和基因组坐标之间的信息翻译，LRG包括对人类基因组组装的映射。LRGs由国家生物技术信息中心（NCBI）和欧洲生物信息学研究所（EBI）编制和维护。LRG参考序列是与诊断和研究界、特定位点数据库管理员和突变联盟合作选择的。目前已经创建了bb100 700个lrg，其中bb100 400个是公开的。目的是为每个具有临床意义的基因座创建LRG。
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.
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影响因子：
7
作者：
Harrow J;Frankish A;Gonzalez JM;Tapanari E;Diekhans M;Kokocinski F;Aken BL;Barrell D;Zadissa A;Searle S;Barnes I;Bignell A;Boychenko V;Hunt T;Kay M;Mukherjee G;Rajan J;Despacio-Reyes G;Saunders G;Steward C;Harte R;Lin M;Howald C;Tanzer A;Derrien T;Chrast J;Walters N;Balasubramanian S;Pei B;Tress M;Rodriguez JM;Ezkurdia I;van Baren J;Brent M;Haussler D;Kellis M;Valencia A;Reymond A;Gerstein M;Guigó R;Hubbard TJ
通讯作者：
Hubbard TJ
影响因子：
3.9
作者：
Wildeman, Martin;van Ophuizen, Ernest;Taschner, Peter E. M.
通讯作者：
Taschner, Peter E. M.
影响因子：
9.8
作者：
Hackman, P;Vihola, A;Udd, B
通讯作者：
Udd, B
影响因子：
5.8
作者：
McLaren, William;Pritchard, Bethan;Cunningham, Fiona
通讯作者：
Cunningham, Fiona
影响因子：
14.9
作者：
Flicek P;Ahmed I;Amode MR;Barrell D;Beal K;Brent S;Carvalho-Silva D;Clapham P;Coates G;Fairley S;Fitzgerald S;Gil L;García-Girón C;Gordon L;Hourlier T;Hunt S;Juettemann T;Kähäri AK;Keenan S;Komorowska M;Kulesha E;Longden I;Maurel T;McLaren WM;Muffato M;Nag R;Overduin B;Pignatelli M;Pritchard B;Pritchard E;Riat HS;Ritchie GR;Ruffier M;Schuster M;Sheppard D;Sobral D;Taylor K;Thormann A;Trevanion S;White S;Wilder SP;Aken BL;Birney E;Cunningham F;Dunham I;Harrow J;Herrero J;Hubbard TJ;Johnson N;Kinsella R;Parker A;Spudich G;Yates A;Zadissa A;Searle SM
通讯作者：
Searle SM