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☆46Updated 3 years ago
- ☆68Updated 3 years ago
- Clinical interpretation of somatic mutations in cancer☆47Updated 4 months ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Characterization of Germline variants☆98Updated 3 years ago
- identifying mutational significance in cancer genomes☆61Updated 2 years ago
- ☆23Updated 6 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆38Updated 2 years ago
- Python package to annotate and visualize gene fusions.☆63Updated 9 months ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆84Updated last month
- A Java package for non-invasive cancer diagnosis using methylation profiles of cell-Free DNA.☆15Updated 6 years ago
- Microsatellite Analysis for Normal-Tumor InStability☆72Updated 3 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- BIC@MSKCC Variants Pipeline☆24Updated 2 years ago
- A combined strategy to identify circular RNAs (circRNAs and ciRNAs) (Zhang et al., Complementary Sequence-Mediated Exon Circularization, …☆61Updated 6 years ago
- DEPRECATED. This tool has been superseded by https://github.com/griffithlab/pVACtools☆61Updated 6 years ago
- A simplified pipeline for ctDNA sequencing data analysis☆37Updated 7 years ago
- This method uses shallow Whole Genome Sequencing (sWGS) and the segmentation of a genomic profile to assess the Homologous Recombination …☆34Updated last year
- ☆50Updated 6 years ago
- This repo has been archived, these workflows are still available in the GATK repository under the scripts directory. The workflows are al…☆78Updated 5 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆29Updated 7 years ago
- Website to analyze conflicting assertions in ClinVar☆18Updated last year
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 4 years ago
- Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay☆57Updated 4 years ago
- ConsensusCruncher is a tool that suppresses errors in next-generation sequencing data by using unique molecular identifiers (UMIs) to ama…☆22Updated 2 years ago
- R Package for Non Invasive Prenatal Testing (NIPT) analysis☆41Updated 5 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated 2 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆80Updated 2 weeks ago
- Workflows for germline short variant discovery in WGS data. PairedEndSingleSampleWf has been superseded in Broad production by https://gi…☆55Updated 5 years ago