rdemolgen / SavvySuiteLinks
Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes
☆29Updated 11 months ago
Alternatives and similar repositories for SavvySuite
Users that are interested in SavvySuite are comparing it to the libraries listed below
Sorting:
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated last year
- Structural variant (SV) analysis tools☆36Updated 11 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- A new tool to infer sex from massively parallel sequencing data.☆17Updated last month
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 4 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Updated last year
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 3 months ago
- Location of public benchmarking; primarily final results☆18Updated 4 months ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆57Updated 3 years ago
- A variant caller for the GBA gene using WGS data☆22Updated 10 months ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Population-wide Deletion Calling☆35Updated 2 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated last month
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Sample Contamination Estimate from VCF☆19Updated 7 months ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- ☆35Updated 4 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- ☆21Updated 2 months ago
- ☆24Updated 10 months ago
- Fast and scalable variant annotation tool☆30Updated 3 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Integrative analysis of complex structural variants☆21Updated 4 years ago
- ☆41Updated 9 months ago
- ☆19Updated 2 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Tools for merging Tandem Repeat VCF files☆29Updated last month