ClinVar: public archive of relationships among sequence variation and human phenotype.
ClinVar: public archive of relationships among sequence variation and human phenotype.
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DOI：
10.1093/nar/gkt1113
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发表时间：
2014-01
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;Riley GR;Jang W;Rubinstein WS;Church DM;Maglott DR
ClinVar（http：//www.ncbi.nlm.nih.gov/clinvar/）提供了医学重要变异体和表型之间关系报告的免费存档。报告人类变异的ClinVar登记资料、该变异与人类健康关系的解释以及支持每种解释的证据。该数据库与dbSNP和dbVar紧密耦合，这两个数据库维护了关于人类装配体上变异位置的信息。ClinVar还基于MedGen中保存的表型描述（http：//www.ncbi.nlm.nih.gov/medgen）。每个ClinVar记录代表亚群、变异和表型，即分配了SCV00000000.0格式登录的单位。子目录可以随时更新提交，在这种情况下，将分配新版本。为了便于评价每种变异的医学重要性，ClinVar汇总了具有相同变异/表型组合的提交资料，增加了来自其他NCBI数据库的价值，指定了格式RCV00000000.0的不同登录，并报告是否存在冲突的临床解释。ClinVar中的数据有多种格式，包括html、下载为XML、VCF或制表符分隔的子集。来自ClinVar的数据作为基因组RefSeqs上的注释轨迹提供，并用于诸如变异报告器（Variation Reporter）（http：//www.ncbi.nlm.nih.gov/variation/tools/reporter）的工具中，其基于用户提供的位置报告关于变异的已知信息。
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the evidence supporting each interpretation. The database is tightly coupled with dbSNP and dbVar, which maintain information about the location of variation on human assemblies. ClinVar is also based on the phenotypic descriptions maintained in MedGen (http://www.ncbi.nlm.nih.gov/medgen). Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0. The submitter can update the submission at any time, in which case a new version is assigned. To facilitate evaluation of the medical importance of each variant, ClinVar aggregates submissions with the same variation/phenotype combination, adds value from other NCBI databases, assigns a distinct accession of the format RCV000000000.0 and reports if there are conflicting clinical interpretations. Data in ClinVar are available in multiple formats, including html, download as XML, VCF or tab-delimited subsets. Data from ClinVar are provided as annotation tracks on genomic RefSeqs and are used in tools such as Variation Reporter (http://www.ncbi.nlm.nih.gov/variation/tools/reporter), which reports what is known about variation based on user-supplied locations.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
14.9
作者：
MacArthur JA;Morales J;Tully RE;Astashyn A;Gil L;Bruford EA;Larsson P;Flicek P;Dalgleish R;Maglott DR;Cunningham F
通讯作者：
Cunningham F
DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
14.9
作者：
NCBI Resource Coordinators
通讯作者：
NCBI Resource Coordinators
影响因子：
3.9
作者：
Amberger, Joanna;Bocchini, Carol;Hamosh, Ada
通讯作者：
Hamosh, Ada