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Projects in Awesome Lists tagged with structural-variants

A curated list of projects in awesome lists tagged with structural-variants .

https://github.com/broadinstitute/gatk-sv

A structural variation pipeline for short-read sequencing

bioinformatics genomics structural-variants structural-variation

Last synced: 12 Apr 2025

https://github.com/MoMI-G/MoMI-G

Modular Multi-scale Integrated Genome Graph Browser

genome-browser genome-graph graph-genome-browser structural-variants variation-graph

Last synced: 10 May 2025

https://github.com/gatb/mindthegap

MindTheGap is a SV caller for short read sequencing data dedicated to insertion variants (all sizes and types). It can also be used as a local assembly tool.

bioinformatics debruijn-graph gatb genomics structural-variants

Last synced: 15 Oct 2025

https://github.com/wglab/phenosv

PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.

phenotyping structural-variants transformer variant-interpretation

Last synced: 17 Jan 2026

https://github.com/tobiasrausch/sv

Structural variant calling tutorial using long-reads.

delly genomics genomics-analysis structural-variants structural-variation

Last synced: 07 Mar 2026

https://github.com/jlmaier12/proactive

Detect elevations and gaps in read coverage on metagenome contigs or assembled genomes

bacteriophage metagenomics mobile-genetic-elements pattern-matching prophages read-mapping sequencing-coverage structural-variants transposable-elements

Last synced: 22 Feb 2026

https://github.com/leahkemp/test_sv_callers

Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).

illumina structural-variants whole-genome-sequencing

Last synced: 29 Oct 2025

https://github.com/fabio-cunial/smaht_experiments

Studying the effect of long-read coverage on somatic structural variant calling from tissues

long-read-sequencing nanopore-sequencing pacbio-sequencing somatic-variants structural-variants

Last synced: 18 Feb 2026