cnv topic

Annotation and Ranking of Structural Variation

lgmgeo

🌲 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

ShixiangWang

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

Illumina

ClassifyCNV: a tool for clinical annotation of copy-number variants

Genotek

Copy Number Variation

flowhub-team

Integrated copy number variation detection toolset

zhouzilu

Copy number variant caller and depth visualization utility for PacBio HiFi reads

PacificBiosciences

Infer copy number variation (CNV) from scRNA-seq data. Plays nicely with Scanpy.

icbi-lab

Detection of allele-specific subclonal copy number variations from single-cell transcriptomic data.

single-cell-genetics

cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data

XWangLabTHU