AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
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DOI：
10.1093/nar/gkab402
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发表时间：
2021-07-02
影响因子：
14.9
通讯作者：
Muller J
中科院分区：
文献类型：
--
作者：
Geoffroy V;Guignard T;Kress A;Gaillard JB;Solli-Nowlan T;Schalk A;Gatinois V;Dollfus H;Scheidecker S;Muller J
随着基因组分析的急剧增加，人类遗传学家已经产生了大量的基因组数据，包括数百万个小的变异(SNV/INDel)，但也有数千个结构变异(SV)，主要来自下一代测序和基于阵列的技术。虽然确定患者的完整SV曲目是可能的，但对每个SV的解释仍然具有挑战性。为了帮助识别人类致病病毒，我们开发了一个专门用于它们的注释和排序(AnnotSV)以及它们的可视化和解释(KnotAnnotSV)的网络服务器，可在以下地址免费获得：https://www.lbgi.fr/AnnotSV/.我们的网络服务器集成了来自>；20来源的大量注释，其中包括基因、单倍性不足、三重敏感性、调节元件、已知致病或良性基因组区域、表型数据。符合ACMG/Clingen的优先排序模块允许对SV进行评分和排名，从致病到良性分为5个SV类别。最后，可视化界面以交互方式显示带注释的SV，包括弹出窗口、搜索字段、过滤选项、突出显示致病SV的高级颜色以及指向UCSC基因组浏览器或其他公共数据库的超链接。该Web服务器旨在通过向用户提供重要资源来进行诊断和研究分析。在这里，我们提供了一个Web服务器，专门用于结构变化的注释和排序(AnnotSV)以及它们的可视化和解释(KnotAnnotSV)。
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing and array-based techniques. While the identification of the complete SV repertoire of a patient is getting possible, the interpretation of each SV remains challenging. To help identifying human pathogenic SV, we have developed a web server dedicated to their annotation and ranking (AnnotSV) as well as their visualization and interpretation (knotAnnotSV) freely available at the following address: https://www.lbgi.fr/AnnotSV/. A large amount of annotations from >20 sources is integrated in our web server including among others genes, haploinsufficiency, triplosensitivity, regulatory elements, known pathogenic or benign genomic regions, phenotypic data. An ACMG/ClinGen compliant prioritization module allows the scoring and the ranking of SV into 5 SV classes from pathogenic to benign. Finally, the visualization interface displays the annotated SV in an interactive way including popups, search fields, filtering options, advanced colouring to highlight pathogenic SV and hyperlinks to the UCSC genome browser or other public databases. This web server is designed for diagnostic and research analysis by providing important resources to the user. Here we present a web server dedicated to the annotation and ranking of structural variations (AnnotSV) as well as their visualization and interpretation (knotAnnotSV).
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DOI：
10.1038/gim.2017.119
发表时间：
2018-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Lionel AC;Costain G;Monfared N;Walker S;Reuter MS;Hosseini SM;Thiruvahindrapuram B;Merico D;Jobling R;Nalpathamkalam T;Pellecchia G;Sung WWL;Wang Z;Bikangaga P;Boelman C;Carter MT;Cordeiro D;Cytrynbaum C;Dell SD;Dhir P;Dowling JJ;Heon E;Hewson S;Hiraki L;Inbar-Feigenberg M;Klatt R;Kronick J;Laxer RM;Licht C;MacDonald H;Mercimek-Andrews S;Mendoza-Londono R;Piscione T;Schneider R;Schulze A;Silverman E;Siriwardena K;Snead OC;Sondheimer N;Sutherland J;Vincent A;Wasserman JD;Weksberg R;Shuman C;Carew C;Szego MJ;Hayeems RZ;Basran R;Stavropoulos DJ;Ray PN;Bowdin S;Meyn MS;Cohn RD;Scherer SW;Marshall CR
通讯作者：
Marshall CR
影响因子：
5.8
作者：
McLaren, William;Pritchard, Bethan;Cunningham, Fiona
通讯作者：
Cunningham, Fiona
DOI：
10.1093/database/baq020
发表时间：
2010-08-05
期刊：
Database : the journal of biological databases and curation
影响因子：
--
作者：
Safran M;Dalah I;Alexander J;Rosen N;Iny Stein T;Shmoish M;Nativ N;Bahir I;Doniger T;Krug H;Sirota-Madi A;Olender T;Golan Y;Stelzer G;Harel A;Lancet D
通讯作者：
Lancet D
影响因子：
5.3
作者：
Clark, Michelle M.;Starke, Zornitza;Kingsmore, Stephen F.
通讯作者：
Kingsmore, Stephen F.
影响因子：
3.9
作者：
Geoffroy, Veronique;Stoetzel, Corinne;Muller, Jean
通讯作者：
Muller, Jean