Illumina / ExpansionHunterDenovoLinks
A suite of tools for detecting expansions of short tandem repeats
☆83Updated 2 years ago
Alternatives and similar repositories for ExpansionHunterDenovo
Users that are interested in ExpansionHunterDenovo are comparing it to the libraries listed below
Sorting:
- A tool for profiling long STRs from short reads☆103Updated 4 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆75Updated last year
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 5 years ago
- Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics☆118Updated 5 months ago
- Data and information about the Polaris study☆54Updated 6 years ago
- BAM Statistics, Feature Counting and Annotation☆151Updated last week
- phasing and Allele Specific Expression from RNA-seq☆117Updated last year
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆82Updated 3 years ago
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆69Updated 2 years ago
- ABRA2☆95Updated 3 years ago
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆91Updated 2 months ago
- Somatic structural variant caller for long-read data☆85Updated 3 weeks ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆76Updated 5 months ago
- WisecondorX — An evolved WISECONDOR☆108Updated 2 weeks ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆107Updated 4 years ago
- Script to automatically create and run IGV snapshot batchscripts☆143Updated 2 years ago
- This repository contains information about latest release from Genome in a Bottle project☆75Updated 6 years ago
- Snakemake pipelines for nanopore sequencing data archiving and processing☆91Updated 3 years ago
- ☆123Updated 4 months ago
- Segmented HAPlotype Estimation and Imputation Tool☆91Updated this week
- Lima - Demultiplex Barcoded PacBio Samples☆67Updated 7 months ago
- Tandem repeat genotyping and visualization from PacBio HiFi data☆129Updated last month
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Helper scripts for biological data processing from Sentieon☆64Updated last month
- Relevant papers for CNV and SV approaches☆94Updated last year
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆50Updated 2 years ago
- Graph realignment tools for structural variants☆164Updated 3 years ago
- Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data☆114Updated 4 years ago
- Fast and accurate coordinate conversion between assemblies☆117Updated 2 months ago