bcbio / bcbio_validationsLinks
Validation runs using bcbio: germline, somatic, structural variant calling and RNA-seq analyses
☆31Updated 3 years ago
Alternatives and similar repositories for bcbio_validations
Users that are interested in bcbio_validations are comparing it to the libraries listed below
Sorting:
- A method to identify structural variation from sequencing data in target regions☆32Updated 5 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆32Updated 9 years ago
- Simultaneous detection of SNPs and Indels using a 16-genotype probabilistic model☆27Updated last year
- Automated human exome/genome variants detection from FASTQ files☆23Updated 4 years ago
- Bamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets☆37Updated 5 years ago
- SiNVICT: Ultra-Sensitive Detection of Single Nucleotide Variants and Indels in Circulating Tumour DNA☆27Updated 5 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆30Updated 4 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Remove primer sequence from BAM alignments by soft-clipping☆31Updated 5 years ago
- ☆25Updated last year
- A Framework to call Structural Variants from NGS based datasets☆22Updated 7 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
- Support Vector Structural Variation Genotyper☆58Updated 5 years ago
- Full-spectrum copy number variation detection by high-throughput DNA sequencing☆40Updated 4 years ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Structural Variant Prediction Viewer☆35Updated 8 years ago
- Simplify snpEff annotations for interesting cases☆22Updated 6 years ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated 2 years ago
- A tool for evaluating RNA seq mapping☆22Updated 6 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated last month
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 5 years ago
- Mapped QC analysis program☆44Updated 7 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Gene Fusion Visualiser☆51Updated 2 years ago
- ☆51Updated 6 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- An awk-like VCF parser☆56Updated last year
- novoBreak: local assembly for breakpoint detection in cancer genomes☆25Updated 7 years ago