aquaskyline / Skyhawk
An Artificial Neural Network-based discriminator for validating clinically significant genomic variants
☆35Updated last year
Alternatives and similar repositories for Skyhawk:
Users that are interested in Skyhawk are comparing it to the libraries listed below
- POSTRE: Prediction Of STRuctural variant Effects☆21Updated 4 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆30Updated last year
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated last year
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- BigWig manpulation tools using libBigWig and htslib☆28Updated 5 months ago
- ☆30Updated 3 years ago
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆41Updated 8 months ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Method for detecting STR expansions from short-read sequencing data☆62Updated 3 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Whole Exome/Whole Genome Sequencing alignment pipeline☆28Updated 4 months ago
- 3D hotspot mutation proximity analysis tool☆46Updated last year
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- predicts neoepitopes from phased somatic mutations detected using tumor/normal DNA-seq data☆26Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Master of Pores 2☆23Updated last month
- Detection of Circular RNA and Fusions from RNA-Seq☆32Updated 6 years ago
- Tool package to perform in-silico CRISPR analysis and assessment☆22Updated 8 months ago
- A method to identify structural variation from sequencing data in target regions☆31Updated 4 years ago
- Samwell: a python package for using genomic files... well☆19Updated 2 years ago
- MuPeXI: the mutant peptide extractor and informer, a tool for predicting neo-epitopes from tumor sequencing data.☆49Updated 5 years ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago
- Tools for next-generation sequencing analysis☆88Updated 5 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- Haplotype, isoform and gene level expression analysis using multi-mapping RNA-seq reads☆68Updated 10 months ago
- detection of duplications and deletions using Python based machine learning techniques☆28Updated 5 years ago