MECP2 KMD genetic variant data in RDF

MECP2 genetic variant data from ClinVar described using the Resource Description Framework (RDF) format following the HGVS standard.<br>This resource is FAIR and has been analyzed in combination with other MECP2 genetic variant data enabled by their interoperability.<br>The data was described in RDF following a genetic variant semantic data model (https://github.com/LUMC-BioSemantics/rett-variant) using a general-purpose FAIRifier tool (https://doi.org/10.1162/dint_a_00031) based on the OpenRefine data cleaning and wrangling tool (http://openrefine.org/).<br>The FAIR machine-readable metadata is available at:http://purl.org/biosemantics-lumc/rettbase/fdp<br>源自临床变异数据库（ClinVar）的MECP2遗传变异数据，采用遵循人类基因组变异协会（HGVS）标准的资源描述框架（RDF）格式进行描述。 本数据集遵循FAIR（可发现、可访问、可互操作、可复用）原则，依托数据互操作性特性，可与其他MECP2遗传变异数据开展联合分析。 本数据集基于以OpenRefine数据清洗与规整工具（http://openrefine.org/）开发的通用FAIR化工具（https://doi.org/10.1162/dint_a_00031），遵循遗传变异语义数据模型（https://github.com/LUMC-BioSemantics/rett-variant），以RDF格式完成描述。 符合FAIR标准的机器可读元数据可通过以下链接获取：http://purl.org/biosemantics-lumc/rettbase/fdp