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Variation data sharing software tools | Genome variation analysis

Sharing of data about variation and the associated phenotypes is a critical need, yet variant information can be arbitrarily complex, making a single standard vocabulary elusive and re-formatting difficult. Complex standards have proven too…
Description…
Desktop
Web

Description Extractor

An efficient algorithm for the extraction of HGVS descriptions from two…

An efficient algorithm for the extraction of HGVS descriptions from two sequences with three main requirements in mind: minimizing the length of the resulting descriptions, minimizing the computation…

Mutalyzer
Web

Mutalyzer Mutation Analyzer

A sequence variation nomenclature checker for automated analysis and correction…

A sequence variation nomenclature checker for automated analysis and correction of sequence variant descriptions using reference sequences from any organism. Mutalyzer handles most variation types:…

VarioML
Desktop

VarioML

A data integration solution that creates a layer of meaning above the many…

A data integration solution that creates a layer of meaning above the many variation standards and formats, enabling them to be integrated and made sense of as a whole. VarioML is not 'Yet…

Information

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