WGLab / phenolyzer
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
- Phenotype driven gene prioritization for HPO☆45Updated 3 years ago
- ☆68Updated 2 years ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- A combined strategy to identify circular RNAs (circRNAs and ciRNAs) (Zhang et al., Complementary Sequence-Mediated Exon Circularization, …☆61Updated 5 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Clinical interpretation of somatic mutations in cancer☆45Updated 2 months ago
- This repository contains Jupyter Notebooks containing GATK Best Practices Workflows☆26Updated 5 years ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆80Updated 4 months ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- ☆23Updated 6 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆56Updated 4 years ago
- A simplified pipeline for ctDNA sequencing data analysis☆36Updated 7 years ago
- identifying mutational significance in cancer genomes☆61Updated 2 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆21Updated 2 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆97Updated 2 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆62Updated last year
- Analysis of subclonal copy number alterations (CNA) and loss of heterozygosity (LOH) in cancer☆97Updated 4 years ago
- WISECONDOR (WIthin-SamplE COpy Number aberration DetectOR): Detect fetal trisomies and smaller CNV's in a maternal plasma sample using wh…☆44Updated last year
- Documenting usage and experience with bioinformatic tools☆41Updated 9 years ago
- BIC@MSKCC Variants Pipeline☆24Updated 2 years ago
- ☆41Updated last year
- Create mutation signatures from MAF's, and decompose them into Stratton signatures☆60Updated 5 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆34Updated 8 years ago
- Microsatellite Analysis for Normal-Tumor InStability☆69Updated 2 years ago
- Burden testing against public controls☆50Updated last year
- ☆57Updated 5 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- Mutational signature analysis for low statistics SNV data☆63Updated 8 months ago
- 3D hotspot mutation proximity analysis tool☆47Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆22Updated last year