gersteinlab / SVFX
Machine learning framework to quantify pathogenicity of structural variants
☆12Updated 3 years ago
Related projects ⓘ
Alternatives and complementary repositories for SVFX
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 4 years ago
- deSALT - De Bruijn graph-based Spliced Aligner for Long Transcriptome reads☆44Updated 2 years ago
- Comprehensive benchmark of structural variant callers☆44Updated 3 years ago
- R package designed to simplify structural variant analysis☆70Updated 2 years ago
- A python tool box for fast and accurate quality control, conversion and alignment of nanopore sequencing data☆20Updated 2 years ago
- RNA modification detection using Nanopore raw reads with Deep One Class classification☆19Updated 3 years ago
- ☆12Updated 2 years ago
- Pipeline for de novo clustering of long transcriptomic reads☆26Updated 2 years ago
- ☆29Updated 2 years ago
- Long-read Isoform Quantification and Analysis☆39Updated 3 months ago
- Scripts to run copynumber variation calls on tumor and normal BAM files using Varscan2☆28Updated 6 years ago
- Workflow for Nanopore Sequencing of 10x single cell libraries☆19Updated 2 years ago
- ☆35Updated 3 years ago
- Hi-C Interaction Frequency Inference (HIFI): High-resolution estimation of DNA-DNA interaction frequency from Hi-C data☆23Updated 2 years ago
- Toolkit for genome-wide analysis of tandem repeats☆55Updated this week
- Analysis pipelines from Oxford Nanopore Technologies' Research Division☆50Updated 4 years ago
- ☆51Updated 5 years ago
- A collection of tools to deal with Bisulfite-seq/NOMe-seq (SNP/Methylation calling: BisSNP; HMM segmentation: DMNTools; Visualization/Clu…☆30Updated 3 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 years ago
- fusion transcript detection using long reads, leveraging ctat-minimap2 and FusionInspector☆14Updated last month
- Structural variant merging tool☆45Updated 2 months ago
- Prediction of RNA modifications and their stoichiometry from per-read features: current intensity, dwell time and trace (Begik*, Lucas* e…☆23Updated last year
- Official code repository for JAX-CNV☆12Updated 4 years ago
- ☆21Updated 2 weeks ago
- Master of Pores 2☆23Updated last year
- NanoMod: a computational tool to detect DNA modifications using Nanopore long-read sequencing data☆36Updated 2 years ago
- Exact Tandem Repeat Finder (not a TRF replacement)☆45Updated 5 years ago
- A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data☆41Updated 8 months ago
- WDL workflows for variant calling and assembly using ONT☆28Updated last month
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆24Updated 9 years ago