KCCG / mityLinks
mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data
☆38Updated last month
Alternatives and similar repositories for mity
Users that are interested in mity are comparing it to the libraries listed below
Sorting:
- ☆35Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆54Updated 2 weeks ago
- ☆51Updated 6 years ago
- ☆23Updated 10 months ago
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 2 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 7 months ago
- Scripts and utilities related to analyzing short tandem repeats (STRs).☆40Updated last month
- Evaluation of phasing performance☆23Updated 7 years ago
- ☆15Updated last year
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework☆41Updated last month
- CADD-SV – a framework to score the effect of structural variants☆16Updated 7 months ago
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- a tool for predicting mitochondrial DNA deletions using soft-clipping☆23Updated 3 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Fast and scalable variant annotation tool☆30Updated 3 years ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- Structural variant merging tool☆55Updated last year
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago