Snakemake-based workflow for detecting structural variants in genomic data
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Updated
Feb 14, 2025 - Python
Snakemake-based workflow for detecting structural variants in genomic data
Merge and compare structural variants across callers, samples, and platforms. Standardizes BND-heavy output from GRIDSS, SvABA, Sniffles, and more.
Population-wide Deletion Calling
Comprehensive structural variant calling, filtering, annotation and consensus set generation from ONT's long read sequencing data
A combination of optical genome mapping with Bionano and whole genome sequencing short-read data. This pipeline was created to help integrate structural variant calling from these two technologies.
Comparing performance of SV callers when using NovoAlign vs other aligners.
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