ClinVar: improving access to variant interpretations and supporting evidence.
ClinVar: improving access to variant interpretations and supporting evidence.
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DOI：
10.1093/nar/gkx1153
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发表时间：
2018-01-04
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 GR;Chao C;Chitipiralla S;Gu B;Hart J;Hoffman D;Jang W;Karapetyan K;Katz K;Liu C;Maddipatla Z;Malheiro A;McDaniel K;Ovetsky M;Riley G;Zhou G;Holmes JB;Kattman BL;Maglott DR
ClinVar(https://www.ncbi.nlm.nih.gov/clinvar/)是一个免费提供的关于人类基因变异及其对疾病重要性的解释的公共档案，由美国国立卫生研究院维护。对变异的临床意义的解释由临床检测实验室、研究实验室、专家小组和其他团体提交。ClinVar按变种-疾病对和变种(或变种集)收集数据。按变式汇总的数据可在网站上以一套改进的变式呼叫格式文件和新的综合XML报告的形式查阅。ClinVar最近开始接受主要专注于为接受过基因测试的个人提供表型信息的提交。提交的材料可能来自提供他们自己的变异体解释的临床提供者(“提供者解释”)，也可能来自主要提供患者表型信息的团体(“仅限于表型分析”)。ClinVar继续改进其搜索和检索功能。现在有几个新的字段被编入索引，以便进行更精确的搜索，并且过滤器允许用户缩小搜索结果的范围。
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant (‘provider interpretation’) or from groups such as patient registries that primarily provide phenotypic information from patients (‘phenotyping only’). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.
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影响因子：
14.9
作者：
NCBI Resource Coordinators
通讯作者：
NCBI Resource Coordinators
影响因子：
14.9
作者：
Köhler S;Vasilevsky NA;Engelstad M;Foster E;McMurry J;Aymé S;Baynam G;Bello SM;Boerkoel CF;Boycott KM;Brudno M;Buske OJ;Chinnery PF;Cipriani V;Connell LE;Dawkins HJ;DeMare LE;Devereau AD;de Vries BB;Firth HV;Freson K;Greene D;Hamosh A;Helbig I;Hum C;Jähn JA;James R;Krause R;F Laulederkind SJ;Lochmüller H;Lyon GJ;Ogishima S;Olry A;Ouwehand WH;Pontikos N;Rath A;Schaefer F;Scott RH;Segal M;Sergouniotis PI;Sever R;Smith CL;Straub V;Thompson R;Turner C;Turro E;Veltman MW;Vulliamy T;Yu J;von Ziegenweidt J;Zankl A;Züchner S;Zemojtel T;Jacobsen JO;Groza T;Smedley D;Mungall CJ;Haendel M;Robinson PN
通讯作者：
Robinson PN
影响因子：
14.9
作者：
Yates B;Braschi B;Gray KA;Seal RL;Tweedie S;Bruford EA
通讯作者：
Bruford EA
影响因子：
5.8
作者：
Danecek, Petr;Auton, Adam;Durbin, Richard
通讯作者：
Durbin, Richard
影响因子：
64.8
作者：
1000 Genomes Project Consortium;Auton A;Brooks LD;Durbin RM;Garrison EP;Kang HM;Korbel JO;Marchini JL;McCarthy S;McVean GA;Abecasis GR
通讯作者：
Abecasis GR