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 4 years ago
- RNA modification detection using Nanopore raw reads with Deep One Class classification☆19Updated 4 years ago
- Structural variant merging tool☆50Updated 9 months ago
- ☆31Updated 2 years ago
- Comprehensive benchmark of structural variant callers☆46Updated 4 years ago
- TEspeX - pipeline for Transposable Elements expression quantification☆21Updated last year
- deSALT - De Bruijn graph-based Spliced Aligner for Long Transcriptome reads☆44Updated 2 years ago
- A tutorial on structural variant calling for short read sequencing data☆38Updated 7 months ago
- R package designed to simplify structural variant analysis☆72Updated 3 years ago
- ☆51Updated 5 years ago
- ☆35Updated 4 years ago
- MethPhaser: methylation-based haplotype phasing of human genomes☆48Updated 3 months ago
- mity: A highly sensitive mitochondrial variant analysis pipeline for whole genome sequencing data☆36Updated 2 months ago
- ☆18Updated last year
- A method for measuring allele-specific telomere length and characterizing telomere variant repeat sequences from long reads.☆18Updated 2 weeks ago
- Official code repository for JAX-CNV☆12Updated 5 years ago
- VCF files of SVs using long-read sequencing (LRS).☆22Updated 3 years ago
- Sample Contamination Estimate from VCF☆19Updated 7 months ago
- Hi-C Interaction Frequency Inference (HIFI): High-resolution estimation of DNA-DNA interaction frequency from Hi-C data☆23Updated 2 years ago
- Ultra rapid nanopore whole genome sequencing pipeline, published in https://www.nature.com/articles/s41587-022-01221-5☆20Updated 11 months ago
- Structural variant (SV) analysis tools☆36Updated 11 months ago
- Workflow for Nanopore Sequencing of 10x single cell libraries☆19Updated 2 months ago
- Version II of Mandalorion☆32Updated 6 years ago
- Identifying differentially methylated regions from MethylC-seq (bisulfite-sequencing) data☆28Updated last year
- Codes for the Iso-Seq variant-calling paper☆11Updated 2 years ago
- Tissue-specific variant annotation☆10Updated 6 years ago
- A python tool box for fast and accurate quality control, conversion and alignment of nanopore sequencing data☆20Updated 2 years ago
- ☆16Updated 4 months ago
- Oxford Nanopore HDF/Fast5 to CRAM conversion tool☆22Updated 5 years ago
- Location of public benchmarking; primarily final results☆18Updated 3 months ago