Introduction to Structural variant detection analyses
DifficultyLevel
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Internal personnel
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Description
Program

* Handling mapping tools suitable for ILLUMINA and ONT data (bwa, minimap2)
* SNP detection from mapping of short reads against a reference genome: SNP calling, filters and SNP annotation. Examples of possible studies based on SNP arrays
* Detecting Structural Variations (SV) in short and long reads (breakdancer, sniffle)
* SV detection from genome assembly and comparison (minimap2, nucmer, assemblytics, siry)