A deep learning-based tool to identify splice variants
☆506Apr 3, 2026Updated 3 months ago
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.☆93Jun 17, 2024Updated 2 years ago
- ☆40Jul 3, 2025Updated last year
- Tissue-specific variant effect predictions on splicing☆44May 23, 2023Updated 3 years ago
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆34Updated this week
- A tool for estimating repeat sizes☆217Jan 30, 2024Updated 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.
- The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants☆565Updated this week
- deep residual neural network for classifying the pathogenicity of missense mutations.☆118Apr 20, 2026Updated 3 months ago
- A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline☆211May 28, 2023Updated 3 years ago
- Structural variant and indel caller for mapped sequencing data☆468Oct 11, 2025Updated 9 months ago
- Annotation-free quantification of RNA splicing. Yang I. Li, David A. Knowles, Jack Humphrey, Alvaro N. Barbeira, Scott P. Dickinson, Hae …☆235Jun 1, 2024Updated 2 years ago
- Primary RNA sequence model☆42May 20, 2024Updated 2 years ago
- DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.☆3,763Mar 19, 2026Updated 4 months ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆406Jun 16, 2026Updated last month
- Haplotype VCF comparison tools☆472Dec 7, 2023Updated 2 years ago
- Simple, predictable pricing with DigitalOcean hosting • AdAlways know what you'll pay with monthly caps and flat pricing. Enterprise-grade infrastructure trusted by 600k+ customers.
- ☆200Jun 20, 2023Updated 3 years ago
- A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS☆51Oct 14, 2023Updated 2 years ago
- ☆306Updated this week
- genetic variant expressions, annotation, and filtering for great good.☆277May 12, 2026Updated 2 months ago
- ☆24Jul 29, 2025Updated 11 months ago
- CADD scripts release for offline scoring. For more information about CADD, please visit our website☆92Oct 30, 2025Updated 8 months ago
- GRIDSS: the Genomic Rearrangement IDentification Software Suite☆286May 21, 2025Updated last year
- ✂️ Deep learning-based splice site predictor that improves spliced alignments☆61Feb 26, 2025Updated last year
- SUPPA: Fast quantification of splicing and differential splicing☆306Nov 6, 2025Updated 8 months ago
- Bare Metal GPUs on DigitalOcean Gradient AI • AdPurpose-built for serious AI teams training foundational models, running large-scale inference, and pushing the boundaries of what's possible.
- Strelka2 germline and somatic small variant caller☆393Apr 20, 2026Updated 3 months ago
- Scalable gVCF merging and joint variant calling for population sequencing projects☆187Apr 12, 2024Updated 2 years ago
- Annotation and Ranking of Structural Variation☆305Jun 19, 2026Updated last month
- Structural variant toolkit for VCFs☆420May 22, 2026Updated 2 months ago
- web-based analysis tool for rare disease genomics☆212Updated this week
- Command-line tool for the visualization of splicing events across multiple samples☆143Jun 28, 2024Updated 2 years ago
- Deep-learning Augmented RNA-seq analysis of Transcript Splicing☆115Feb 7, 2024Updated 2 years ago
- DELLY2: Structural variant discovery by integrated paired-end and split-read analysis☆527Updated this week
- A neural network model to predict splice site usage and splicing-altering mutations☆17Jul 24, 2025Updated last year
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- The next version of bwa-mem☆852Oct 15, 2025Updated 9 months ago
- deep learning-inspired explainable sequence model for transcription initiation☆106Mar 3, 2025Updated last year
- RTG Tools: Utilities for accurate VCF comparison and manipulation☆338May 27, 2025Updated last year
- Official code repository for GATK versions 4 and up☆1,977Updated this week
- Plugins for the Ensembl Variant Effect Predictor (VEP)☆170Jul 14, 2026Updated last week
- A toolset for profiling alternative splicing events in RNA-Seq data.☆95Apr 29, 2026Updated 2 months ago
- Tool for the Quality Control of Long-Read Defined Transcriptomes☆275Updated this week