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

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

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

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

Python toolkit for parsing, processing, and analysis of Illumina methylation array IDAT files

Bioinformatics CNV Detection with Random Forest Model

Hidden Markov Model based Copy number caller

A new CNV calling method for DNA-seq data

TCGA hg19 and hg38 data downloader.

An adaptable method for analyzing SNVs, INDELs, and CNVs from Whole Exome Sequencing (WES) data, emphasizing germline variants.

(current) Comprehensive WGS omics analysis pipeline ( reads to variants & QC ) : Sequence Platforms ( Illumina, PacBio, ONT, Ultima, Roche )

A state-space CNV Caller with Disease Profiling

In this repository I backup the pipelines I write for the project I am involved

CNV DB Adapter

A Snakemake pipeline for copy number variant calling without normal tissue samples

A high-accuracy tool for integrating scDNA-seq and scRNA-seq data

The performance of individual CNV detection software and state-of-the-art sequencing. All analyses were performed using the Python and R programming languages.

A simple module for diagnostic variant information parsing

AnnotSV project to work with MongoDB and FastAPI, made for cnvhub.net

Within-sample CNV calling