quinlan-lab / pathoscore
pathoscore evaluates variant pathogenicity tools and scores.
☆21Updated 2 years ago
Alternatives and similar repositories for pathoscore:
Users that are interested in pathoscore are comparing it to the libraries listed below
- ☆21Updated last week
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated 10 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆33Updated 3 months ago
- picking up low allelic-fraction, somatic variants from tumor samples☆14Updated 7 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Location of public benchmarking; primarily final results☆18Updated last month
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆21Updated 3 weeks ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆25Updated 8 years ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- BigWig manpulation tools using libBigWig and htslib☆29Updated 7 months ago
- v2.x of the microassembly based somatic variant caller☆20Updated this week
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆28Updated 8 months ago
- Sample Contamination Estimate from VCF☆19Updated 4 months ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- Building the constrained coding regions (CCR) model☆16Updated 6 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month