fa2k / raredisease-configsLinks
Config and setup to run nf-core/raredisease pipeline
☆10Updated 3 months ago
Alternatives and similar repositories for raredisease-configs
Users that are interested in raredisease-configs are comparing it to the libraries listed below
Sorting:
- ☆19Updated last week
- (WIP) best-practices workflow for rare disease☆62Updated last year
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated 2 weeks ago
- ☆44Updated last year
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆35Updated 2 years ago
- BigWig and BAM utilities☆99Updated last year
- A tool to benchmark mappers and different parameters within minutes☆44Updated 6 years ago
- Structural Variant Index☆75Updated last year
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 6 years ago
- Variant Interpretation Pipeline☆45Updated 2 weeks ago
- A software for calculating telomere length☆72Updated 7 years ago
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- A read extraction and realignment tool for next generation sequencing data☆103Updated 3 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- RUFUS k-mer based genomic variant detection☆54Updated last month
- reference implementation of GA4GH WGS Quality Control Standards☆11Updated last month
- Pipeline for structural variant image curation and analysis.☆49Updated 4 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated last month
- Tool for parsing outputs from fusion detection tools. Part of a nf-core/rnafusion pipeline. Checkout a live demo at https://matq007.githu…☆28Updated 6 months ago
- Support Vector Structural Variation Genotyper☆58Updated 5 years ago
- Thousand Variant Callers Project Repository☆74Updated 6 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- TIDDIT - structural variant calling☆78Updated 3 weeks ago
- Mapped QC analysis program☆44Updated 7 years ago
- Structural variant (SV) analysis tools☆39Updated last year
- Filtering and profiling of next-generational sequencing data using region-specific rules☆79Updated 2 years ago
- ☆35Updated 4 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago