brentp / rare-disease-wfLinks
(WIP) best-practices workflow for rare disease
☆62Updated 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:
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆35Updated 2 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆57Updated 2 weeks ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- ☆44Updated last year
- Structural variant (SV) analysis tools☆39Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- TIDDIT - structural variant calling☆78Updated 3 weeks ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆37Updated 2 weeks ago
- RUFUS k-mer based genomic variant detection☆54Updated last month
- BigWig and BAM utilities☆99Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 4 months ago
- ☆23Updated 7 months ago
- Immuological gene typing and annotation for genome assembly☆38Updated 9 months ago
- create a gemini-compatible database from a VCF☆55Updated 4 years ago
- Splice junction analysis and filtering from BAM files☆42Updated 3 years ago
- Thousand Variant Callers Project Repository☆74Updated 6 years ago
- An R package for estimating poly(A)-tail lengths in Oxford Nanopore RNA and DNA reads.☆55Updated last year
- Long-read splice alignment with high accuracy☆64Updated last year
- Location of public benchmarking; primarily final results☆18Updated 10 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Generic human DNA variant annotation pipeline☆59Updated last year
- ☆33Updated 3 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆28Updated 10 months ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆33Updated 6 months ago
- 10x Genomics Linked-Read Alignment, Variant Calling, Phasing, and Structural Variant Calling☆33Updated 5 years ago
- ☆51Updated 6 years ago
- ☆35Updated 4 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework☆41Updated 3 weeks ago