bioinformatics-IBCH / Comparison-study-of-germline-CNV-calling-tools
☆16Updated 3 years ago
Alternatives and similar repositories for Comparison-study-of-germline-CNV-calling-tools:
Users that are interested in Comparison-study-of-germline-CNV-calling-tools are comparing it to the libraries listed below
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆60Updated last year
- Benchmarking of CNV calling tools☆18Updated 5 years ago
- ☆39Updated 9 months ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- Burden testing against public controls☆50Updated 11 months ago
- ☆52Updated 2 years ago
- R package for inferring copy number from read depth☆32Updated 2 years ago
- QDNAseq package for Bioconductor☆49Updated 6 months ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆67Updated 5 months ago
- CN-Learn☆29Updated 5 years ago
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆41Updated this week
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆46Updated 4 years ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- Structural variant merging tool☆49Updated 5 months ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆45Updated this week
- Linkage disequlibrium-informed PGT-A (LD-PGTA). A package for detecting genotypic signatures of aneuploidy from extremely low-coverage se…☆16Updated 2 years ago
- The ECCsplorer is a bioinformatics pipeline for the automated detection of extrachromosomal circular DNA (eccDNA) from paired-end read da…☆19Updated 10 months ago
- ☆45Updated 5 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- QDNAseq bin annotation for hg38☆14Updated 2 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- ENCODE long read RNA-seq pipeline☆45Updated 2 years ago
- ☆51Updated 5 years ago
- ☆39Updated 5 months ago
- CNV screening and annotation tool☆24Updated 8 years ago
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆26Updated last week
- SQANTI2 is now replaced by SQANTI3. Please go to: https://github.com/ConesaLab/SQANTI3☆38Updated 4 years ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 2 years ago