通过ClinGen数据平台访问临床级基因组分类数据。

Q2 Computer Science
Karen P Dalton, Heidi L Rehm, Matt W Wright, Mark E Mandell, Kilannin Krysiak, Lawrence Babb, Kevin Riehle, Tristan Nelson, Alex H Wagner
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引用次数: 0

摘要

临床基因组资源(ClinGen)是基因和变异临床相关性的权威资源。为了支持我们的管理活动并向社区传播我们的发现,我们开发了一个由标准化数据模型支持的信息学资源数据平台。在本次研讨会中,我们展示了我们公开可用的资源,包括管理接口(变种管理接口,CIViC),支持基础设施(等位基因注册,Genegraph)和数据模型(SEPIO, GA4GH VRS, VA)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.

The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

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