gersteinlab / SVFXLinks
Machine learning framework to quantify pathogenicity of structural variants
☆12Updated 4 years ago
Alternatives and similar repositories for SVFX
Users that are interested in SVFX are comparing it to the libraries listed below
Sorting:
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- deSALT - De Bruijn graph-based Spliced Aligner for Long Transcriptome reads☆44Updated 3 years ago
- Analysis pipelines from Oxford Nanopore Technologies' Research Division☆50Updated 4 years ago
- ☆12Updated 3 years ago
- Generic human DNA variant annotation pipeline☆58Updated last year
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆44Updated 8 months ago
- Computational pipeline for calling consensi on R2C2 nanopore data☆31Updated 3 years ago
- R package designed to simplify structural variant analysis☆73Updated 3 years ago
- Version II of Mandalorion☆32Updated 6 years ago
- Official code repository for JAX-CNV☆12Updated 5 years ago
- A software package for detection of copy number alterations from tumor samples☆12Updated 10 years ago
- Deep Learning based variant calling toolkit - https://clara-parabricks.github.io/VariantWorks/☆46Updated 2 weeks ago
- A python tool box for fast and accurate quality control, conversion and alignment of nanopore sequencing data☆20Updated 3 years ago
- Toolkit for genome-wide analysis of tandem repeats☆58Updated last month
- Long-read Isoform Quantification and Analysis☆38Updated 5 months ago
- A tool to design highly specific PCR primers for the validation of genomic alterations including structural variants☆46Updated 8 years ago
- ☆35Updated 4 years ago
- ☆51Updated 6 years ago
- A tutorial on structural variant calling for short read sequencing data☆39Updated 10 months ago
- for visual evaluation of read support for structural variation☆54Updated last year
- ClairS-TO - a deep-learning method for tumor-only somatic variant calling☆68Updated 5 months ago
- TEspeX - pipeline for Transposable Elements expression quantification☆21Updated 2 years ago
- Structural variant merging tool☆53Updated last year
- Detection of viruses from RNA-Seq on human samples☆45Updated 2 years ago
- ☆36Updated 2 years ago
- Workflow for Nanopore Sequencing of 10x single cell libraries☆19Updated 5 months ago
- An accurate repeat detection from Nanopore data using deep learning and image techniques☆23Updated 2 years ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆37Updated 2 months ago
- Methods to integrate data from multiple genome sequencing datasets and form consensus variant calls☆44Updated 3 years ago