brentp / rare-disease-wfLinks
(WIP) best-practices workflow for rare disease
☆60Updated last year
Alternatives and similar repositories for rare-disease-wf
Users that are interested in rare-disease-wf are comparing it to the libraries listed below
Sorting:
- TIDDIT - structural variant calling☆76Updated 4 months ago
- POSTRE: Prediction Of STRuctural variant Effects☆27Updated 6 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- Location of public benchmarking; primarily final results☆18Updated 6 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated 2 weeks ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆49Updated this week
- ☆44Updated 11 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Immuological gene typing and annotation for genome assembly☆37Updated 5 months ago
- Splice junction analysis and filtering from BAM files☆40Updated 3 years ago
- BigWig and BAM utilities☆97Updated last year
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago
- RetroSeq is a bioinformatics tool that searches for mobile element insertions from aligned reads in a BAM file and a library of reference…☆67Updated 2 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆57Updated 8 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆33Updated last month
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Thousand Variant Callers Project Repository☆73Updated 5 years ago
- for visual evaluation of read support for structural variation☆54Updated last year
- A tutorial on structural variant calling for short read sequencing data☆39Updated 10 months ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- ☆35Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- A simple script to create a customizable html file from an AnnotSV output.☆19Updated last year
- ☆23Updated 3 months ago
- Long-read splice alignment with high accuracy☆64Updated 11 months ago
- Structural variant (SV) analysis tools☆36Updated last year
- Mapped QC analysis program☆44Updated 7 years ago
- A read extraction and realignment tool for next generation sequencing data☆103Updated 2 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago