WGLab / phenolyzerLinks
phenotype-based prioritization of candidate genes for human diseases
☆65Updated 2 years ago
Alternatives and similar repositories for phenolyzer
Users that are interested in phenolyzer are comparing it to the libraries listed below
Sorting:
- Phenotype driven gene prioritization for HPO☆49Updated 4 years ago
- Clinical interpretation of somatic mutations in cancer☆48Updated 7 months ago
- ☆69Updated 3 years ago
- MuPeXI: the mutant peptide extractor and informer, a tool for predicting neo-epitopes from tumor sequencing data.☆51Updated 6 years ago
- identifying mutational significance in cancer genomes☆61Updated 2 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- A Java package for non-invasive cancer diagnosis using methylation profiles of cell-Free DNA.☆15Updated 6 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆86Updated 4 months ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 3 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆84Updated last month
- 3D hotspot mutation proximity analysis tool☆48Updated 2 years ago
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 8 years ago
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated 3 weeks ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆67Updated 2 years ago
- Website to analyze conflicting assertions in ClinVar☆19Updated last year
- ☆57Updated 5 years ago
- A combined strategy to identify circular RNAs (circRNAs and ciRNAs) (Zhang et al., Complementary Sequence-Mediated Exon Circularization, …☆61Updated 6 years ago
- Scripts involved in our workflow for detecting CNVs from WGS data using read depth-based methods☆46Updated 3 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆49Updated 6 years ago
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆26Updated 5 years ago
- ☆23Updated 7 years ago
- Python package to annotate and visualize gene fusions.☆64Updated last year
- Documenting usage and experience with bioinformatic tools☆40Updated 10 years ago