Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.
☆35Oct 2, 2026Updated last week
Alternatives and similar repositories for SpliceAI-lookup
Users that are interested in SpliceAI-lookup are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆42Jul 3, 2025Updated last year
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- ☆25Jul 29, 2025Updated last year
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Jul 1, 2026Updated 3 months ago
- Pangolin is a deep-learning method for predicting splice site strengths.☆97Jun 17, 2024Updated 2 years ago
- End-to-end encrypted cloud storage - Proton Drive • AdSpecial offer: 40% Off Yearly / 80% Off First Month. Protect your most important files, photos, and documents from prying eyes.
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆23Jul 23, 2026Updated 2 months ago
- Short Tandem Repeat disease loci resource☆29Oct 8, 2026Updated last week
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆24Aug 27, 2026Updated last month
- A CNN model to identify MEIs in WGS☆14Mar 4, 2025Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆32Jul 3, 2026Updated 3 months ago
- Pre-mAsking Long reads for Mobile Element inseRtion☆10Feb 27, 2023Updated 3 years ago
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆15May 16, 2026Updated 4 months ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆14Apr 5, 2025Updated last year
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 10 years ago
- Tandem repeat genotyping with long reads☆40Sep 23, 2025Updated last year
- ☆19Mar 14, 2022Updated 4 years ago
- Sample Contamination Estimate from VCF☆21Nov 6, 2024Updated last year
- A deep learning-based tool to identify splice variants☆506Apr 3, 2026Updated 6 months ago
- Phenotype-based Diagnosis Tool for Rare Diseases☆13Mar 2, 2026Updated 7 months ago
- ☆12Oct 19, 2021Updated 4 years ago
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆19Jan 16, 2026Updated 8 months ago
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 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.
- ☆15Jul 21, 2022Updated 4 years ago
- ☆76Mar 13, 2026Updated 7 months ago
- Tools for processing and analyzing structural variants.☆33Sep 8, 2015Updated 11 years ago
- Scripts and utilities for analyzing tandem repeats (TRs).☆53Updated this week
- ☆17Oct 17, 2024Updated last year
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 5 years ago
- 🤖 Open‑source deep-learning-based splice‑site predictor that decodes splicing patterns across species☆53Updated this week
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 6 years ago
- Burden testing against public controls☆51Feb 27, 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.
- ☆12Sep 30, 2026Updated 2 weeks ago
- RNAseq pipeline for alternative splicing junctions☆15Mar 26, 2026Updated 6 months ago
- ☆28Sep 18, 2026Updated 3 weeks ago
- ☆32Dec 6, 2024Updated last year
- An easy-to-use python package can be used for genomic visual analysis☆23Apr 20, 2024Updated 2 years ago
- Tandem Repeats Caller for LOng Reads☆17May 28, 2021Updated 5 years ago
- VPOT - Variant Prioritisation Ordering Tool. VPOT is a Python tool written to allow prioritisation of variants in ANNOVAR annotated VCF f…☆19Oct 27, 2021Updated 4 years ago