A deep learning-based tool to identify splice variants
☆498Apr 3, 2026Updated last month
Alternatives and similar repositories for SpliceAI
Users that are interested in SpliceAI are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Pangolin is a deep-learning method for predicting splice site strengths.☆88Jun 17, 2024Updated last year
- ☆40Jul 3, 2025Updated 10 months ago
- Tissue-specific variant effect predictions on splicing☆44May 23, 2023Updated 3 years ago
- A tool for estimating repeat sizes☆210Jan 30, 2024Updated 2 years ago
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆31May 12, 2026Updated last week
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆552Apr 13, 2026Updated last month
- deep residual neural network for classifying the pathogenicity of missense mutations.☆116Apr 20, 2026Updated last month
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆208May 28, 2023Updated 2 years ago
- Structural variant and indel caller for mapped sequencing data☆465Oct 11, 2025Updated 7 months ago
- Primary RNA sequence model☆42May 20, 2024Updated 2 years ago
- Annotation-free quantification of RNA splicing. Yang I. Li, David A. Knowles, Jack Humphrey, Alvaro N. Barbeira, Scott P. Dickinson, Hae …☆232Jun 1, 2024Updated last year
- DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.☆3,707Mar 19, 2026Updated 2 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆404May 1, 2026Updated 3 weeks ago
- Haplotype VCF comparison tools☆467Dec 7, 2023Updated 2 years ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- ✂️ Deep learning-based splice site predictor that improves spliced alignments☆61Feb 26, 2025Updated last year
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- ☆297Mar 4, 2026Updated 2 months ago
- genetic variant expressions, annotation, and filtering for great good.☆274May 12, 2026Updated last week
- ☆195Jun 20, 2023Updated 2 years ago
- ☆24Jul 29, 2025Updated 9 months ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆91Oct 30, 2025Updated 6 months ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆283May 21, 2025Updated last year
- SUPPA: Fast quantification of splicing and differential splicing☆300Nov 6, 2025Updated 6 months ago
- Deploy open-source AI quickly and easily - Special Bonus Offer • AdRunpod Hub is built for open source. One-click deployment and autoscaling endpoints without provisioning your own infrastructure.
- Scalable gVCF merging and joint variant calling for population sequencing projects☆183Apr 12, 2024Updated 2 years ago
- Strelka2 germline and somatic small variant caller☆394Apr 20, 2026Updated last month
- Annotation and Ranking of Structural Variation☆296May 12, 2026Updated last week
- web-based analysis tool for rare disease genomics☆204Updated this week
- Structural variant toolkit for VCFs☆411Updated this week
- Command-line tool for the visualization of splicing events across multiple samples☆141Jun 28, 2024Updated last year
- Deep-learning Augmented RNA-seq analysis of Transcript Splicing☆115Feb 7, 2024Updated 2 years ago
- A neural network model to predict splice site usage and splicing-altering mutations☆17Jul 24, 2025Updated 10 months ago
- deep learning-inspired explainable sequence model for transcription initiation☆104Mar 3, 2025Updated last year
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- The next version of bwa-mem☆834Oct 15, 2025Updated 7 months ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆515May 15, 2026Updated last week
- Tool for the Quality Control of Long-Read Defined Transcriptomes☆265Updated this week
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆335May 27, 2025Updated 11 months ago
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆169Updated this week
- Official code repository for GATK versions 4 and up☆1,950Updated this week
- Plot structural variant signals from many BAMs and CRAMs☆567Jul 13, 2024Updated last year