Annotation and Ranking of Structural Variation
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Updated
Aug 29, 2024 - Tcl
Annotation and Ranking of Structural Variation
🌲 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
Infer copy number variation (CNV) from scRNA-seq data. Plays nicely with Scanpy.
ClassifyCNV: a tool for clinical annotation of copy-number variants
Copy Number Variation
cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data
Copy number variant caller and depth visualization utility for PacBio HiFi reads
What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
Detection of allele-specific subclonal copy number alterations from single-cell transcriptomic data.
Workflow for Sequenza, cellularity and ploidy
Short reads aligner for NIPT/CNV
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.
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
Official code repository for JAX-CNV
Copy number estimation of highly duplicated sequences
A fork of the project Excavator2 from sourceforge.
A pipeline for detecting Somatic Insertion of DE novo RETROcopies
Dzyaloshinskii-Moriya interaction for crystallographic class Cnv
Bioinformatics CNV Detection with Random Forest Model
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