MECP2 EVA genetic variant data in RDF

dataset

posted on 2019-11-28, 15:34 authored by Annika JacobsenAnnika Jacobsen

MECP2 genetic variant data from EVA 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

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MECP2 genetic variant Rett syndrome HGVS Nomenclature Bioinformatics Computational Biology Genetics

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