theodorc / Atlas-CNV
Method to detect exonic CNVs in NGS Gene Targeted Panels
☆16Updated 5 years ago
Alternatives and similar repositories for Atlas-CNV:
Users that are interested in Atlas-CNV are comparing it to the libraries listed below
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 8 months ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆21Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 7 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- A variant caller for the GBA gene using WGS data☆21Updated 7 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 weeks ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆37Updated 3 years ago
- ☆39Updated 5 months ago
- ☆35Updated 4 years ago
- Model files for Sentieon variant callers☆14Updated last week
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- Tools for processing and analyzing structural variants.☆32Updated 9 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 8 months ago
- ☆39Updated 10 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆27Updated last year