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GeneticThesaurus

GeneticThesaurus is meant for analysis of genetic variation in repetitive regions. It contains programs that build a table, called a thesaurus, describing genomic regions with similar sequence. It also provides tools that use the thesaurus to annotate variants.

Usage

• [Build] - create a thesaurus from scratch
• [Download] - download a prepared thesaurus
• [Filter] - filter a set of variants using a thesaurus
• [Followup] - learn more about variants through thesaurus annotation
• [Example] - a usage example using synthetic data (2 minutes)
• [Miscellaneous] - tips and tricks
• [Multiple Samples] - (v0.2.0) annotate variants in matched/related samples

Development

• [Development] - source code, third-party libraries, and components used within this project
• [Versions] - history of updates

Thesaurus Resources

• [Resources] - links to already computed thesaurus files (hg19, hg38)

Publications

• [Publications] - links to publications using the GeneticThesaurus

Please send comments or bug reports to 'tomasz dot konopka at ludwig dot ox dot ac dot uk'.