quinlan-lab / pathoscore
pathoscore evaluates variant pathogenicity tools and scores.
☆21Updated 2 years ago
Related projects ⓘ
Alternatives and complementary repositories for pathoscore
- ☆21Updated 2 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated 10 months ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Samwell: a python package for using genomic files... well☆19Updated 2 years ago
- BigWig manpulation tools using libBigWig and htslib☆28Updated 3 months ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆33Updated 8 months ago
- Tool package to perform in-silico CRISPR analysis and assessment☆22Updated 6 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- v2.x of the microassembly based somatic variant caller☆14Updated last month
- Sample Contamination Estimate from VCF☆19Updated this week
- Location of public benchmarking; primarily final results☆18Updated 2 years ago
- Structural variant (SV) analysis tools☆36Updated 4 months ago
- Workflow Description Language (WDL) scripts for common vg workflows☆17Updated last week
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- 🍶 Genome assembly with short sequence reads☆24Updated 9 months ago
- ☆21Updated last year
- Somatic (mosaic) SNV caller for 10X Genomics data using random forest classification and feature-based filters☆24Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- A Framework to call Structural Variants from NGS based datasets☆21Updated 6 years ago
- picking up low allelic-fraction, somatic variants from tumor samples☆14Updated 6 years ago
- ☆18Updated 4 years ago
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆28Updated last week
- Master of Pores 2☆23Updated last year
- Stupid Simple Structural Variant View☆25Updated 7 years ago
- Ultra rapid nanopore whole genome sequencing pipeline, published in https://www.nature.com/articles/s41587-022-01221-5☆18Updated 4 months ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year