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.☆34Updated 2 years ago
- Immuological gene typing and annotation for genome assembly☆38Updated 8 months ago
- ☆35Updated 4 years ago
- Location of public benchmarking; primarily final results☆18Updated 9 months ago
- 10x Genomics Linked-Read Alignment, Variant Calling, Phasing, and Structural Variant Calling☆33Updated 5 years ago
- ☆44Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 3 months ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- TIDDIT - structural variant calling☆77Updated 7 months ago
- RUFUS k-mer based genomic variant detection☆54Updated 10 months ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- PopSTR - A Population based microsatellite genotyper☆33Updated 2 years ago
- ☆23Updated 11 months ago
- Structural variant (SV) analysis tools☆39Updated last year
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆37Updated 5 years ago
- Generic human DNA variant annotation pipeline☆59Updated last year
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆55Updated this week
- Genomic VCF to tab-separated values☆48Updated 2 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆33Updated 5 months ago
- CADD-SV – a framework to score the effect of structural variants☆17Updated 3 weeks ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆48Updated 5 years ago