quinlan-lab / pathoscoreLinks
pathoscore evaluates variant pathogenicity tools and scores.
☆22Updated 3 years ago
Alternatives and similar repositories for pathoscore
Users that are interested in pathoscore are comparing it to the libraries listed below
Sorting:
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- An Artificial Neural Network-based discriminator for validating clinically significant genomic variants☆35Updated last year
- prioritize effects of variant annotations from VEP, SnpEff, et al.☆34Updated 9 months ago
- Qtip: a tandem simulation approach for accurately predicting read alignment mapping qualities☆25Updated 5 years ago
- Somatic (mosaic) SNV caller for 10X Genomics data using random forest classification and feature-based filters☆23Updated 6 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated last year
- ☆22Updated 2 weeks ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆39Updated 2 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆28Updated 7 months ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- Variant catalogue pipeline☆26Updated 5 months ago
- robust matching of small variant datasets using flexible scoring schemes☆11Updated 5 years ago
- A curated list of awesome clonality and tumor heterogeneity resources☆15Updated 6 years ago
- Website to analyze conflicting assertions in ClinVar☆19Updated last year
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- ☆18Updated 5 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants☆25Updated 9 years ago
- Location of public benchmarking; primarily final results☆18Updated 7 months ago
- ☆29Updated 4 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated 4 months ago
- A program for fast and accurate genome-guided transcripts reconstruction and quantification from RNA-seq (Supporting Pacbio single-end)☆24Updated 4 years ago