Structural variant and indel caller for mapped sequencing data
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Jul 17, 2019 - C++
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structural-variation
Here are 92 public repositories matching this topic...
Structural variation caller using third generation sequencing
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Dec 18, 2020 - C++
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
c-plus-plus
bam-files
genome
tumor
cancer-genomics
bioconda
germline
structural-variation
svs
delly-users
genomic
rearrangement
delly
sv-discovery
deli
delly-discussion-group
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Updated
Jul 23, 2021 - C++
structural variant calling and genotyping with existing tools, but, smoothly.
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May 18, 2021 - Go
Structural variant toolkit for VCFs
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Jul 23, 2021 - Python
Fast and accurate gene fusion detection from RNA-Seq data
rna-seq
cancer
gene-fusion
star
variant-calling
virus-integration
structural-variation
fusion-genes
gene-fusions
fusion-gene
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Jul 27, 2021 - C++
Tools for processing and analyzing structural variants.
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Jun 20, 2021 - Python
Graph realignment tools for structural variants
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Apr 16, 2021 - C++
Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data
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Mar 23, 2021 - Python
Long read based human genomic structural variation detection with cuteSV
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Jul 19, 2021 - Python
don't get DUP'ed or DEL'ed by your putative SVs.
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Dec 14, 2020 - Nim
A method for variant graph genotyping based on exact alignment of k-mers
ngs
bayesian-inference
variant-calling
indels
gibbs-sampling
structural-variation
snvs
dna-sequencing
genotyping
k-mers
variant-graphs
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Updated
Apr 1, 2019 - C++
An R package for studying mutational signatures and structural variant signatures along clonal evolution in cancer.
visualization
bioinformatics
r
genomics
cancer-genomics
clonality
somatic-mutations
nmf
cancer-research
bioinformatics-analysis
structural-variation
tumor-evolution
mutational-signatures
tumor-heterogeneity
signature-extraction
nmf-extraction
structural-variant-signatures
driver-events
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Jun 15, 2021 - R
Support Vector Structural Variation Genotyper
machine-learning
bioinformatics
genotype
structural-variation
genotyping-by-sequencing
de-novo-mutation
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May 29, 2020 - Python
simuG: a general-purpose genome simulator
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Mar 25, 2021 - Perl
The Modular Aligner and The Modular SV Caller
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Feb 5, 2021 - C++
SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data
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Mar 3, 2021 - C++
Pipeline for structural variation detection in cohorts
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Apr 21, 2021 - wdl
A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data
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May 5, 2021 - Python
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Jul 12, 2021 - Python
A method for circular DNA detection based on probabilistic mapping of ultrashort reads
ngs
circrna
structural-variation
circrna-prediction
genotyping
circrnas
eccdna
ecdna
circular-dna
microdna
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Mar 10, 2021 - Python
dysgu-SV is a collection of tools for calling structural variants using short or long reads
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Jul 27, 2021 - Python
Identification of segmental duplications in the genome
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Sep 2, 2020 - C++
Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.
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Jun 16, 2021 - C++
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
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Jul 13, 2021 - C#
Method to optimally select samples for validation and resequencing
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Apr 6, 2021 - C++
A Framework to call Structural Variants from NGS based datasets
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Jan 22, 2018 - Python
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
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Mar 24, 2021
Linear-time, low-memory construction of variation graphs
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Feb 3, 2020 - C++
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