ClinVar: public archive of interpretations of clinically relevant variants.
ClinVar: public archive of interpretations of clinically relevant variants.
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DOI：
10.1093/nar/gkv1222
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发表时间：
2016-01-04
影响因子：
14.9
通讯作者：
Maglott DR
中科院分区：
文献类型：
--
作者：
Landrum MJ;Lee JM;Benson M;Brown G;Chao C;Chitipiralla S;Gu B;Hart J;Hoffman D;Hoover J;Jang W;Katz K;Ovetsky M;Riley G;Sethi A;Tully R;Villamarin-Salomon R;Rubinstein W;Maglott DR
国家生物技术信息中心（NCBI）的ClinVar（https：//www.ncbi.nlm.nih.gov/clinvar/）是一个免费提供的档案，用于解释报告条件下变体的临床意义。该数据库包括任何大小、类型或基因组位置的种系和体细胞变体。解释由临床检测实验室、研究实验室、基因座特定数据库、OMIM®、GeneReviews™、UniProt、专家小组和实践指南提交。在NCBI的变体提交门户中，提交者可以上传批量提交或使用提交向导进行单个提交。每个提交的解释都分配了一个以SCV为前缀的登录号。ClinVar工作人员使用HGVS（人类基因组变异学会）表达等数据类型审查确认报告;然而，临床意义直接来自提交者报告。通过变量-条件组合聚合解释，并分配以RCV为前缀的登录号。计算汇总记录的临床意义，表明提交的解释中存在共识或冲突。ClinVar使用数据标准，例如变体的HGVS命名法和病症的MedGen标识符。这些数据可以在网络上以变体特定视图的形式获得;整个数据集可以通过ftp下载。可通过NCBI的电子实用程序对ClinVar记录进行编程访问。未来的开发包括提供一个以变量为中心的XML存档和一个用于SCV提交细节的Web页面。
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels and practice guidelines. In NCBI's Variation submission portal, submitters upload batch submissions or use the Submission Wizard for single submissions. Each submitted interpretation is assigned an accession number prefixed with SCV. ClinVar staff review validation reports with data types such as HGVS (Human Genome Variation Society) expressions; however, clinical significance is reported directly from submitters. Interpretations are aggregated by variant-condition combination and assigned an accession number prefixed with RCV. Clinical significance is calculated for the aggregate record, indicating consensus or conflict in the submitted interpretations. ClinVar uses data standards, such as HGVS nomenclature for variants and MedGen identifiers for conditions. The data are available on the web as variant-specific views; the entire data set can be downloaded via ftp. Programmatic access for ClinVar records is available through NCBI's E-utilities. Future development includes providing a variant-centric XML archive and a web page for details of SCV submissions.