Annotation and Ranking of Structural Variation
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Mar 6, 2025 - Tcl
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cnv
Here are 93 public repositories matching this topic...
Infer copy number variation (CNV) from scRNA-seq data. Plays nicely with Scanpy.
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Jun 9, 2025 - Python
🌲 An easy-to-use and scalable toolkit for genomic alteration signature (a.k.a. mutational signature) analysis and visualization in R https://shixiangwang.github.io/sigminer/reference/index.html
visualization bioinformatics r somatic-variants easy-to-use sbs somatic-mutations cnv nmf cancer-research dbs mutational-signatures copynumber-signatures indel signature-extraction nmf-extraction cosmic-signatures bayesian-nmf
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Oct 12, 2024 - R
cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data
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Aug 18, 2022 - Python
ClassifyCNV: a tool for clinical annotation of copy-number variants
bioinformatics annotations duplication pathogenicity cnv copy-number-variation deletion clinical-genomics
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Jun 26, 2023 - Python
Copy Number Variation
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Jun 28, 2023
Joint structural variant and copy number variant caller for HiFi sequencing data
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May 19, 2025 - Rust
Copy number variant caller and depth visualization utility for PacBio HiFi reads
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Oct 22, 2024 - Shell
Detection of allele-specific subclonal copy number alterations from single-cell transcriptomic data.
cancer-genomics cnv single-cell-rna-seq single-cell-analysis cnv-detection spatial-transcriptomics cna-detection
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May 20, 2025 - Python
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
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Sep 13, 2023 - C#
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
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Feb 21, 2025 - Nextflow
Workflow for Sequenza, cellularity and ploidy
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Jun 10, 2025 - R
This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm-level copy-number variant calls and arm-level weighted average log2 segment means from segmented copy number data.
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Jan 31, 2024 - R
Short reads aligner for NIPT/CNV
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Oct 10, 2018 - C
Official code repository for JAX-CNV
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Jan 16, 2020 - C++
Copy number estimation of highly duplicated sequences
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Aug 15, 2017 - Perl
A fork of the project Excavator2 from sourceforge.
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Jun 29, 2017 - R
Dzyaloshinskii-Moriya interaction for crystallographic class Cnv
dmi cnv oommf periodic-boundary-conditions skyrmion ubermag oommf-extensions dzyaloshinskii-moriya-interaction interfacial-dmi
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May 24, 2021 - C++
A pipeline for detecting Somatic Insertion of DE novo RETROcopies
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Nov 21, 2024 - C
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