vplagnol / ExomeDepthLinks
ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
☆69Updated 3 months ago
Alternatives and similar repositories for ExomeDepth
Users that are interested in ExomeDepth are comparing it to the libraries listed below
Sorting:
- ☆39Updated last year
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆69Updated 9 months ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆65Updated last year
- QDNAseq package for Bioconductor☆50Updated 10 months ago
- Structural Variant Index☆74Updated 5 months ago
- TIDDIT - structural variant calling☆73Updated last month
- ☆53Updated 2 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Updated 4 years ago
- An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.☆30Updated 2 weeks ago
- Filtering and profiling of next-generational sequencing data using region-specific rules☆77Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 2 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆47Updated 5 years ago
- R package designed to simplify structural variant analysis☆72Updated 3 years ago
- Bioinformatic Analysis pipeLine for SomAtic Mutations In Cancer☆47Updated this week
- R package for inferring copy number from read depth☆32Updated 2 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆32Updated last month
- ☆78Updated 11 years ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Create "haplotype maps" of variants in order to use with Picardtools Crosscheck_Files utility, which allows for robust genotyping of func…☆28Updated last year
- Tip and tricks for BAM files☆85Updated 6 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls☆43Updated 3 years ago
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- Detection of CNVs (deletion/duplication) in target panel based NGS data☆16Updated 2 years ago
- Read visualizer for structural variants☆84Updated 6 years ago
- An awk-like VCF parser☆56Updated last year
- Documenting usage and experience with bioinformatic tools☆40Updated 9 years ago
- Thousand Variant Callers Project Repository☆72Updated 5 years ago
- CNV screening and annotation tool☆25Updated 8 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆49Updated last year