Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.
☆29Feb 10, 2026Updated 2 months ago
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:
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- ☆24Jul 29, 2025Updated 8 months ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 11 months ago
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆21Jan 4, 2026Updated 3 months ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Apr 2, 2026Updated 2 weeks ago
- GPU virtual machines on DigitalOcean Gradient AI • AdGet to production fast with high-performance AMD and NVIDIA GPUs you can spin up in seconds. The definition of operational simplicity.
- A CNN model to identify MEIs in WGS☆13Mar 4, 2025Updated last year
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated 2 months ago
- ☆39Jul 3, 2025Updated 9 months ago
- Pre-mAsking Long reads for Mobile Element inseRtion☆10Feb 27, 2023Updated 3 years ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆12Apr 5, 2025Updated last year
- Pangolin is a deep-learning method for predicting splice site strengths.☆85Jun 17, 2024Updated last year
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 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 months ago
- Wordpress hosting with auto-scaling - Free Trial • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- ☆15Jul 21, 2022Updated 3 years ago
- ☆74Mar 13, 2026Updated last month
- Tandem repeat genotyping with long reads☆36Sep 23, 2025Updated 6 months ago
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- ☆19Mar 14, 2022Updated 4 years ago
- Burden testing against public controls☆49Feb 27, 2024Updated 2 years ago
- 🤖 Open‑source deep-learning-based splice‑site predictor that decodes splicing patterns across species☆40Dec 11, 2025Updated 4 months ago
- An easy-to-use python package can be used for genomic visual analysis☆21Apr 20, 2024Updated last year
- Tandem Repeats Caller for LOng Reads☆17May 28, 2021Updated 4 years ago
- 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.
- ☆20Jul 28, 2025Updated 8 months ago
- A deep learning-based tool to identify splice variants☆491Apr 3, 2026Updated last week
- convert from HDF5 matrix format to txt/tab (tsv) matrix format☆10Aug 3, 2016Updated 9 years ago
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- Convert RepeatMasker ".out" file into a gff3 with colors!!!☆25Aug 20, 2020Updated 5 years ago
- MEME motif-based sequence analysis tools (http://meme-suite.org), with FreeBSD tweaks☆16Jul 26, 2017Updated 8 years ago
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 5 years ago
- Alignment-based Scrubbing pipeline☆21Mar 14, 2024Updated 2 years ago
- Miscellaneous scripts for applications of PacBio systems☆27Apr 19, 2022Updated 3 years ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- VCF files of SVs using long-read sequencing (LRS).☆22Dec 17, 2021Updated 4 years ago
- ☆12Jun 15, 2023Updated 2 years ago
- Scripts and utilities for analyzing tandem repeats (TRs).☆44Mar 31, 2026Updated 2 weeks ago
- snakemake workflow for post-processing scATACseq data☆23Jul 15, 2020Updated 5 years ago
- ☆35Nov 1, 2021Updated 4 years ago
- MrMosaic (Genomic Mosaic Structural Variant Caller)☆15Jul 21, 2017Updated 8 years ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated last year