PapenfussLab / PathOSLinks
PathOS is a clinical application for filtering, analysing and reporting on NGS variants
☆29Updated 4 years ago
Alternatives and similar repositories for PathOS
Users that are interested in PathOS are comparing it to the libraries listed below
Sorting:
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- ☆29Updated 4 years ago
- Website to analyze conflicting assertions in ClinVar☆19Updated last year
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 7 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- VCF-Miner: A graphical user interface for sorting, filtering and querying annotated VCF Files☆37Updated 5 years ago
- BrowseVCF is a web-based application and workflow to quickly prioritise disease-causative variants in VCF files.☆46Updated 5 years ago
- Mutation Identification Pipeline. Read the latest documentation:☆47Updated last year
- Generic human DNA variant annotation pipeline☆58Updated last year
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- Call regions of homozygosity and make tentative UPD calls☆12Updated 3 months ago
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Estimate damage in standard NGS library preparation. Incompatible with library preparation methods from which the imbalance is lost (such…☆54Updated 8 years ago
- Annotation of VCF variants with functional impact and from databases (executable+library)☆63Updated last week
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆53Updated this week
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 6 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 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
- ☆46Updated 5 years ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated 11 months ago
- Variant caller GUI + genetic disease analysis☆22Updated 5 years ago
- Example project for integrating igv.js and flask☆26Updated 4 months ago