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
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 3 years ago
- Tool package to perform in-silico CRISPR analysis and assessment☆24Updated 10 months ago
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆41Updated 10 months ago
- predicts neoepitopes from phased somatic mutations detected using tumor/normal DNA-seq data☆26Updated last year
- POSTRE: Prediction Of STRuctural variant Effects☆21Updated last month
- 3D hotspot mutation proximity analysis tool☆47Updated 2 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- MuPeXI: the mutant peptide extractor and informer, a tool for predicting neo-epitopes from tumor sequencing data.☆50Updated 5 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 4 years ago
- ☆29Updated 4 years ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- A Java package for non-invasive cancer diagnosis using methylation profiles of cell-Free DNA.☆14Updated 6 years ago
- Opossum is a tool to pre-process RNA-seq reads prior to variant calling.☆28Updated 6 years ago
- Tools for next-generation sequencing analysis☆88Updated 5 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Method for detecting STR expansions from short-read sequencing data☆62Updated 3 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆33Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆32Updated last year
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated last year
- Demonstrating best practices for bioinformatics command line tools☆26Updated 4 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Updated 5 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- Whole Exome/Whole Genome Sequencing alignment pipeline☆28Updated 6 months ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Deep Learning based variant calling toolkit - https://clara-parabricks.github.io/VariantWorks/☆45Updated 2 years ago
- ☆24Updated 4 years ago