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gatk-sv broadinstitute

71

173

bsd-3-clause

14

A structural variation pipeline for short-read sequencing

genomics bioinformatics structural-variants structural-variation

Created 2020-06-18

513 commits to main branch, last one 2 days ago

raredisease nf-core

35

91

mit

158

Call and score variants from WGS/WES of rare disease patients.

snv wes wgs nf-core nextflow pipeline workflow diagnostics rare-disease variant-calling variant-annotation structural-variants

Created 2021-06-21

2,676 commits to master branch, last one 3 months ago

MoMI-G MoMI-G

6

87

mit

7

Modular Multi-scale Integrated Genome Graph Browser

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

Created 2018-02-06

392 commits to master branch, last one about a month ago

sv-callers GooglingTheCancerGenome

35

78

apache-2.0

4

Snakemake-based workflow for detecting structural variants in genomic data

wgs workflow snakemake sv-calling bioinformatics cancer-genomics hpc-applications somatic-variants germline-variants structural-variants

Created 2017-04-10

474 commits to master branch, last one 10 months ago

HiPhase PacificBiosciences

4

72

other

7

Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads

hifi phasing variants pacbio-data structural-variants short-tandem-repeats

Created 2023-02-14

50 commits to main branch, last one 2 months ago

sawfish PacificBiosciences

1

33

other

13

Structural variant discovery and genotyping from mapped PacBio HiFi data

hifi variant-calling structural-variants structural-variation

Created 2024-02-21

21 commits to main branch, last one 4 days ago

HiFi-SVTopo PacificBiosciences

1

27

other

6

Complex structural variant visualization for HiFi sequencing data

hifi genomics bioinformatics data-visualization structural-variants structural-variation genomics-visualization

Created 2024-03-21

85 commits to main branch, last one about a month ago