matheuscburger / Excavator2
A fork of the project Excavator2 from sourceforge.
☆9Updated 7 years ago
Alternatives and similar repositories for Excavator2:
Users that are interested in Excavator2 are comparing it to the libraries listed below
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆25Updated 7 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆35Updated 7 months ago
- Plot CNV data with a genome viewer in R☆15Updated 7 years ago
- NiPTUNE. A Python library for NIPT analyses.☆9Updated 3 years ago
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 6 months 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
- v2.x of the microassembly based somatic variant caller☆14Updated 4 months ago
- A Mendelian approach to variant effect prediction built in keras☆16Updated 3 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆29Updated last month
- ☆39Updated 4 months ago
- CNV detection tool for targeted NGS panel data☆16Updated 2 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 6 months ago
- CNV calling algorithm for detection of homozygous and hemizygous deletions from whole exome sequencing data☆12Updated 6 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆24Updated last month
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆30Updated last year
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆22Updated 2 years ago
- ☆21Updated this week
- NanoRepeat: fast and accurate analysis of Short Tandem Repeats (STRs) from Oxford Nanopore sequencing data☆18Updated last month
- Phase reads, assemble haplotypes and detect SVs☆19Updated 4 years ago
- PopSTR - A Population based microsatellite genotyper☆32Updated last year
- An insertion caller for Illumina paired-end WGS data.☆23Updated 5 months ago
- Sample Contamination Estimate from VCF☆19Updated 2 months ago
- heuristics to merge structural variant calls in VCF format.☆35Updated 8 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- Genotyping of segregating mobile elements insertions☆19Updated 3 years ago
- CAVA (Clinical Annotation of VAriants)☆14Updated 6 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated 8 months ago