Illumina / ExpansionHunterDenovoLinks
A suite of tools for detecting expansions of short tandem repeats
☆82Updated 2 years ago
Alternatives and similar repositories for ExpansionHunterDenovo
Users that are interested in ExpansionHunterDenovo are comparing it to the libraries listed below
Sorting:
- Runs a combination of tools to generate structural variant calls on whole-genome sequencing data☆103Updated 4 years ago
- Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data☆71Updated 11 months ago
- A tool for profiling long STRs from short reads☆99Updated 4 years ago
- Data and information about the Polaris study☆53Updated 5 years ago
- Somatic and germline variant caller for amplicon data. Recommended caller for tumor-only workflows.☆98Updated 3 years ago
- ExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.☆73Updated 2 months ago
- BAM Statistics, Feature Counting and Annotation☆149Updated last week
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆50Updated last year
- Snakemake pipelines for nanopore sequencing data archiving and processing☆91Updated 3 years ago
- Stratification BED files from the Global Alliance for Genomics and Health (GA4GH) Benchmarking Team and the Genome in a Bottle Consortium…☆81Updated 2 years ago
- Comprehensive TE insertion identification with WGS/WES data from multiple sequencing technics☆116Updated last month
- phasing and Allele Specific Expression from RNA-seq☆116Updated last year
- ClassifyCNV: a tool for clinical annotation of copy-number variants☆66Updated 2 years ago
- Correct mismatches, microindels, and noncanonical splice junctions in long reads that have been mapped to the genome☆69Updated last year
- Read visualizer for structural variants☆84Updated 7 years ago
- This repository contains information about latest release from Genome in a Bottle project☆74Updated 6 years ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Updated 4 years ago
- ☆53Updated 2 years ago
- A simple toolset for BED files (warning: CLI may change before bedtk becomes stable)☆143Updated this week
- Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data☆87Updated last month
- ☆123Updated 3 weeks ago
- Helper scripts for biological data processing from Sentieon☆64Updated last week
- WisecondorX — An evolved WISECONDOR☆101Updated last week
- ABRA2☆92Updated 2 years ago
- Lima - Demultiplex Barcoded PacBio Samples☆66Updated 3 months ago
- VerifyBamID2: A robust tool for DNA contamination estimation from sequence reads using ancestry-agnostic method.☆99Updated last year
- Data from the Human PanGenomics Project☆60Updated 4 years ago
- Toolkit for calling structural variants using short or long reads☆108Updated 3 weeks ago
- CNV screening and annotation tool☆25Updated 8 years ago
- Tandem repeat genotyping and visualization from PacBio HiFi data☆123Updated last month