rhshah / iAnnotateSV
iAnnotateSV is a Python library and command-line software toolkit to annotate and visualize structural variants detected from Next Generation DNA sequencing data.
☆16Updated last week
Alternatives and similar repositories for iAnnotateSV:
Users that are interested in iAnnotateSV are comparing it to the libraries listed below
- v2.x of the microassembly based somatic variant caller☆20Updated 2 weeks ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated last month
- Toolkit for calling and analyzing de novo STR mutations☆13Updated last year
- ☆11Updated 6 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 6 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 3 weeks ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated 2 months ago
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 10 months ago
- ☆12Updated 11 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 9 months ago
- Unfazed by genomic variant phasing☆26Updated 10 months ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- ☆21Updated last week
- The R package "sarlacc" contains a pipeline to analyse nanopore sequencing data. It trims adapter sequences, retrieves optional UMI's, cl…☆13Updated 6 years ago
- CLI to automate Nextflow pipeline testing☆12Updated last month
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆16Updated last year
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆12Updated 3 years ago
- extract SV signal from a BAM☆11Updated 6 years ago
- DRAGEN Tumor/Normal workflow post-processing☆22Updated last year
- ☆13Updated last year
- Allele frequency filter app☆14Updated 2 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Explore and filter structural variant calls from Lumpy and Delly VCF files☆8Updated 4 years ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- Haplotype-based somatic genome simulator☆10Updated 7 years ago
- Filter and prioritize fusion calls☆20Updated 6 months ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year