biowdl / germline-DNALinks
A BioWDL variantcalling pipeline for germline DNA data. Starting with FASTQ files to produce VCF files. Category:Multi-Sample
☆26Updated 2 years ago
Alternatives and similar repositories for germline-DNA
Users that are interested in germline-DNA are comparing it to the libraries listed below
Sorting:
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆42Updated 3 weeks ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses☆31Updated 3 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- TIDDIT - structural variant calling☆76Updated 5 months ago
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Updated 5 years ago
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 7 months ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆40Updated 4 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆28Updated 6 months ago
- Kourami: Graph-guided assembly for HLA alleles☆38Updated 6 years ago
- (WIP) best-practices workflow for rare disease☆62Updated last year
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- for visual evaluation of read support for structural variation☆54Updated last year
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆58Updated 8 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- GEM-Mapper v3☆57Updated 6 months ago
- Deep learning-based structural variant filtering method☆39Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆50Updated this week
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 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
- Read visualizer for structural variants☆84Updated 7 years ago
- CN-Learn☆30Updated 5 years ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago