ClinVar: improvements to accessing data
ClinVar: improvements to accessing data
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DOI：
10.1093/nar/gkz972
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发表时间：
2020-01-08
影响因子：
14.9
通讯作者：
Kattman, Brandi L.
中科院分区：
文献类型：
--
作者：
Landrum, Melissa J.;Chitipiralla, Shanmuga;Kattman, Brandi L.
ClinVar是由美国国立卫生研究院（NIH）维护的一个免费提供的人类基因变异及其与疾病和其他状况的关系的公共档案。提交的变体解释汇总并在ClinVar网站（https://www.ncbi.nlm.nih.gov/clinvar/）上提供，并通过FTP和NCBI的E-utilities等编程工具作为可下载文件。ClinVar网站上的默认视图，变异页面，最近被重新设计了。新的布局包括几个新的部分，可以更容易地找到提交的数据以及汇总数据，例如所有疾病和报告的变体引用。新的设计还能更好地代表更复杂的数据，如单倍型和基因型。以及在ClinVar中作为单倍型或基因型的一部分，但对单个变体没有解释的变体。ClinVar以变体为中心的XML于2019年4月发布了产品版本。ClinVar网站和E-utilities都进行了更新，以支持以变体为中心的XML文件中的VCV （ClinVar的变体）登录号。ClinVar的搜索引擎已经进行了微调，以改进搜索结果的检索。
ClinVar is a freely available, public archive of human genetic variants and interpretations of their relationships to diseases and other conditions, maintained at the National Institutes of Health (NIH). Submitted interpretations of variants are aggregated and made available on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/), and as downloadable files via FTP and through programmatic tools such as NCBI's E-utilities. The default view on the ClinVar website, the Variation page, was recently redesigned. The new layout includes several new sections that make it easier to find submitted data as well as summary data such as all diseases and citations reported for the variant. The new design also better represents more complex data such as haplotypes and genotypes. as well as variants that are in ClinVar as part of a haplotype or genotype but have no interpretation for the single variant. ClinVar's variant-centric XML had its production release in April 2019. The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file. ClinVar's search engine has been fine-tuned for improved retrieval of search results.