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kcleal
dysgu

Toolkit for calling structural variants using short or long reads

10K 115 14
ACEnglish
truvari

Structural variant toolkit for VCFs

3K 407 60
fritzsedlazeck
sniffles

Structural variation caller using third generation sequencing

2K 651 101
murphycj
agfusion

Python package to annotate and visualize gene fusions.

2K 67 27
bcgsc
mavis

Merging, Annotation, Validation, and Illustration of Structural variants

2K 76 14
sbslee
pypgx

A Python package for pharmacogenomics (PGx) research

1K 88 19
iprada
circle-map

A method for circular DNA detection based on probabilistic mapping of ultrashort reads

1K 65 20
XiaoTaoWang
neoloop

A computation framework for genome-wide detection of enhancer-hijacking events from chromatin interaction data in re-arranged genomes

730 76 18
tjiangHIT
cutesv

Long read based human genomic structural variation detection with cuteSV

715 286 38
ylab-hi
chimeralm

A language model enables accurate structural variant detection in whole-genome amplified long-read sequencing

560 3 0
hall-lab
svtools

Tools for processing and analyzing structural variants.

491 157 56
dantaki
sv2

Support Vector Structural Variation Genotyper

243 59 9
bio-ontology-research-group
deepsvp

DeepSVP: Integration of Genomics and Phenotypes forStructural Variant Prioritization using Deep Learning

110 18 4
rhshah
icallsv

A Framework to call Structural Variants from NGS based datasets

94 22 10
MNMdiagnostics
dbfe

Distribution-based feature extraction

87 6 2
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