rdemolgen / SavvySuite
Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
☆29Updated 9 months ago
Alternatives and similar repositories for SavvySuite:
Users that are interested in SavvySuite are comparing it to the libraries listed below
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 10 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 2 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆32Updated 2 months ago
- v2.x of the microassembly based somatic variant caller☆21Updated last week
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 10 months ago
- ☆22Updated 4 months ago
- A variant caller for the GBA gene using WGS data☆21Updated 9 months ago
- ☆21Updated 3 weeks ago
- ☆39Updated 7 months ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- Prioritize structural variants based on CADD scores☆29Updated 4 years ago
- Pipeline for structural variant image curation and analysis.☆48Updated 3 years ago
- CNV detection tool for targeted NGS panel data☆16Updated 3 years ago
- This is a pipeline for variant annotation in the diagnosis of rare genetic disorders. It relies on open source data and has instructions …☆17Updated 2 years ago
- Structural variant (SV) analysis tools☆36Updated 10 months ago
- heuristics to merge structural variant calls in VCF format.☆36Updated 8 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 2 months ago
- Integrative analysis of complex structural variants☆21Updated 4 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year