quinlan-lab / pathoscoreLinks
pathoscore evaluates variant pathogenicity tools and scores.
☆21Updated 3 years ago
Alternatives and similar repositories for pathoscore
Users that are interested in pathoscore are comparing it to the libraries listed below
Sorting:
- ☆21Updated last month
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 5 months ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 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 3 months ago
- ☆29Updated 4 years ago
- Sample Contamination Estimate from VCF☆19Updated 6 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- ☆18Updated 5 years ago
- Prioritize structural variants based on CADD scores☆29Updated 5 years ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆25Updated 9 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 5 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 9 months ago
- Library for indexing VCF files for random access searches by rsID☆17Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆16Updated last year
- v2.x of the microassembly based somatic variant caller☆23Updated last month
- A curated list of awesome clonality and tumor heterogeneity resources☆15Updated 5 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆28Updated 11 months ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Building the constrained coding regions (CCR) model☆16Updated 6 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated 3 weeks ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆24Updated 9 years ago