遇见数据集

MECP2 ExAC genetic variant data in RDF

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NIAID Data Ecosystem2026-03-11 收录
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MECP2 genetic variant data from ClinVar described using the Resource Description Framework (RDF) format following the HGVS standard. This resource is FAIR and has been analyzed in combination with other MECP2 genetic variant data enabled by their interoperability. 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/). The FAIR machine-readable metadata is available at:http://purl.org/biosemantics-lumc/rettbase/fdp

创建时间:
2019-11-28
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