gagneurlab / abspliceView external linksLinks
☆39Jul 3, 2025Updated 7 months ago
Alternatives and similar repositories for absplice
Users that are interested in absplice are comparing it to the libraries listed below
Sorting:
- ☆23Jul 29, 2025Updated 6 months ago
- Tissue-specific variant effect predictions on splicing☆42May 23, 2023Updated 2 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 9 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Aug 13, 2025Updated 6 months ago
- Tandem repeat genotyping from long reads☆20Updated this week
- Pangolin is a deep-learning method for predicting splice site strengths.☆85Jun 17, 2024Updated last year
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- A CNN model to identify MEIs in WGS☆12Mar 4, 2025Updated 11 months ago
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 4 months ago
- Shiny app for geno-pheno catalog☆11Nov 4, 2022Updated 3 years ago
- REEV: Explanation and Evaluation of Variants☆11Updated this week
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Jun 25, 2019Updated 6 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Oct 16, 2023Updated 2 years ago
- ☆19Mar 21, 2024Updated last year
- ☆18Jun 3, 2020Updated 5 years ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Dec 18, 2025Updated last month
- ✂️ Deep learning-based splice site predictor that improves spliced alignments☆59Feb 26, 2025Updated 11 months ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆12Apr 5, 2025Updated 10 months ago
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆13Oct 7, 2025Updated 4 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆39Dec 15, 2025Updated 2 months ago
- ☆11May 3, 2022Updated 3 years ago
- Website for checking a variant's SpliceAI, Pangolin, and other scores:☆29Updated this week
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆18Nov 14, 2025Updated 3 months ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆85Jan 5, 2026Updated last month
- A tutorial on structural variant calling for short read sequencing data☆39Oct 24, 2024Updated last year
- STRspy: a novel alignment and quantification-based state-of-the-art method, short tandem repeat (STR) detection calling tool designed spe…☆18Aug 17, 2025Updated 5 months ago
- A neural network model to predict splice site usage and splicing-altering mutations☆15Jul 24, 2025Updated 6 months ago
- ☆27Dec 5, 2024Updated last year
- Updated figures for "A benchmarking of WGS-based structural variant callers" paper☆27Apr 3, 2022Updated 3 years ago
- UMCU Genetics Nextflow modules☆30Oct 25, 2024Updated last year
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- A deep learning-based tool to identify splice variants☆485Feb 4, 2026Updated last week
- Suite of heritability and genetic correlation estimation tools for exome-sequencing data☆35Dec 5, 2025Updated 2 months ago
- General Use Scripts and Helper functions☆16Mar 29, 2018Updated 7 years ago
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Jan 16, 2026Updated 3 weeks ago