MECP2 DECIPHER genetic variant data in RDF

MECP2 genetic variant data from DECIPHER 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>本数据集为源自DECIPHER的MECP2遗传变异数据，以遵循HGVS（人类基因组变异协会，Human Genome Variation Society）标准的资源描述框架（Resource Description Framework, RDF）格式进行描述。 本数据集符合FAIR原则，并依托数据互操作性实现了与其他MECP2遗传变异数据集的整合分析。 本数据集以RDF格式进行描述，遵循遗传变异语义数据模型（https://github.com/LUMC-BioSemantics/rett-variant），并采用基于OpenRefine数据清洗与整理工具开发的通用FAIRifier工具（https://doi.org/10.1162/dint_a_00031）完成标注。 本数据集的FAIR机器可读元数据可通过以下链接获取：http://purl.org/biosemantics-lumc/rettbase/fdp