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:
- Snakemake-based workflow for detecting structural variants in genomic data☆80Updated 6 months ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- (WIP) best-practices workflow for rare disease☆60Updated last year
- Toolkit for the design and analysis of amplicon sequencing experiments utilizing unique molecular identifiers (UMIs)☆42Updated last year
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆49Updated this week
- Generic human DNA variant annotation pipeline☆58Updated last year
- Method to detect exonic CNVs in NGS Gene Targeted Panels☆16Updated 5 years ago
- Model files for Sentieon variant callers☆16Updated last week
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆39Updated 4 years ago
- POSTRE: Prediction Of STRuctural variant Effects☆27Updated 6 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated last year
- for visual evaluation of read support for structural variation☆54Updated last year
- Kourami: Graph-guided assembly for HLA alleles☆39Updated 6 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- TIDDIT - structural variant calling☆76Updated 4 months ago
- mtDNA Variant Caller☆34Updated 8 months ago
- Script to convert GTC/BPM files to VCF☆47Updated 11 months ago
- Phylogeny-based Contamination Detection in Mitochondrial and Whole-Genome Sequencing Studies☆18Updated 2 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- ☆39Updated last month
- MetaSV: An accurate and integrative structural-variant caller for next generation sequencing☆57Updated 8 years ago
- CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data.☆40Updated last week
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 9 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- Deep Learning based variant calling toolkit - https://clara-parabricks.github.io/VariantWorks/☆46Updated last week
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- fusion transcript detection using long reads, leveraging ctat-minimap2 and FusionInspector☆22Updated 3 weeks ago
- Concordance and contamination estimator for tumor–normal pairs☆58Updated 10 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆33Updated last month
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆30Updated 2 weeks ago