Characterization of Germline variants
☆100Mar 15, 2022Updated 3 years ago
Alternatives and similar repositories for CharGer
Users that are interested in CharGer are comparing it to the libraries listed below
Sorting:
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆206May 28, 2023Updated 2 years ago
- Personal Cancer Genome Reporter (PCGR)☆274Oct 7, 2025Updated 4 months ago
- ☆44Oct 27, 2018Updated 7 years ago
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Dec 8, 2020Updated 5 years ago
- VAPr: A Python package for NoSQL variant data storage, annotation and prioritization☆37Jun 30, 2021Updated 4 years ago
- A set of tools to annotate VCF files with expression and readcount data☆30Jan 30, 2026Updated last month
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆25Sep 30, 2025Updated 5 months ago
- Cancer Predisposition Sequencing Reporter (CPSR)☆63Oct 19, 2025Updated 4 months ago
- ☆29Feb 17, 2021Updated 5 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- An ensemble approach to accurately detect somatic mutations using SomaticSeq☆203Jan 5, 2026Updated last month
- Precision HLA typing from next-generation sequencing data☆210Mar 5, 2024Updated last year
- Copy number calling and variant classification using targeted short read sequencing☆145Feb 19, 2026Updated last week
- structural variant database software☆47Feb 16, 2026Updated 2 weeks ago
- ☆24Feb 23, 2026Updated last week
- Search for activating regulatory variants in the tumor genome☆14Apr 11, 2025Updated 10 months ago
- R package designed to simplify structural variant analysis☆74Dec 22, 2021Updated 4 years ago
- CNV Rapid Aberration Detection And Reporting☆12Mar 2, 2021Updated 5 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 6 years ago
- ☆43Feb 9, 2024Updated 2 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Sep 16, 2025Updated 5 months ago
- A mosaic detecting software based on phasing and random forest☆70Dec 8, 2025Updated 2 months ago
- identifying mutational significance in cancer genomes☆62Nov 16, 2022Updated 3 years ago
- Concordance and contamination estimator for tumor–normal pairs☆59Oct 22, 2024Updated last year
- DRAGEN Tumor/Normal workflow post-processing☆25Sep 18, 2023Updated 2 years ago
- ☆36Mar 16, 2021Updated 4 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆99Jun 22, 2022Updated 3 years ago
- Microassembly based somatic variant caller for NGS data☆154Jun 23, 2022Updated 3 years ago
- A modular annotation tool for genomic variants☆146Updated this week
- POSTRE: Prediction Of STRuctural variant Effects☆28Jan 9, 2026Updated last month
- Annotates variants in MAF with OncoKB annotation.☆141Feb 19, 2026Updated last week
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Oct 6, 2020Updated 5 years ago
- An R package for studying mutational signatures and structural variant signatures along clonal evolution in cancer.☆72May 23, 2024Updated last year
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆47Jun 26, 2020Updated 5 years ago
- Generate an enhanced VCF files from ClinVar XML Full releases☆15Feb 23, 2026Updated last week
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago