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URL: https://github.com/mlinderm/npsv
Proper Citation: NPSV (RRID:SCR_020984)
Description: Software Python tool for standalone genotyping of deletion and insertion structural variants in short read whole genome sequencing data. Implements machine learning based approach for SV genotyping that employs NGS simulation to model the combined effects of the genomic region, sequencer and alignment pipeline.
Synonyms: Non-Parametric Structural Variant Genotyper, Non-Parametric Structural Variant genotyper
Resource Type: simulation software, software resource, software application
Keywords: WGS data, short read, whole genome sequencing data, standalone genotyping, insertion structural variants, deletion structural variants, structural variants, SV genotyping, NGS simulation
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