3ASC: variant prioritization tool leveraging multiple instance learning for rare Mendelian disease genomic testing
☆11Nov 11, 2024Updated last year
Alternatives and similar repositories for ASC3
Users that are interested in ASC3 are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆19May 31, 2026Updated 4 months ago
- AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis☆23May 12, 2026Updated 5 months ago
- NiPTUNE. A Python library for NIPT analyses.☆11Nov 22, 2021Updated 4 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆42May 19, 2026Updated 5 months ago
- ☆17Oct 17, 2024Updated 2 years ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- A Mendelian approach to variant effect prediction built in keras☆22Aug 22, 2026Updated 2 months ago
- ☆12Sep 30, 2026Updated 3 weeks ago
- ☆11May 12, 2026Updated 5 months ago
- Visualizing genetic sequence variation☆14Apr 27, 2020Updated 6 years ago
- TAPES : a Tool for Assessment and Prioritisation in Exome Studies☆27Jun 22, 2026Updated 4 months ago
- ☆33Dec 6, 2024Updated last year
- ☆11Aug 29, 2022Updated 4 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 6 years ago
- Automatic classification of sequence variants and CNVs according to ACMG criteria.☆34Sep 30, 2024Updated 2 years ago
- Managed Kubernetes at scale on DigitalOcean • AdDigitalOcean Kubernetes includes the control plane, bandwidth allowance, container registry, automatic updates, and more for free.
- This is the official development repository for BaseVar, which call variants for large-scale ultra low-pass (<1.0x) WGS data, especially …☆28May 28, 2026Updated 5 months ago
- Rails application for storing and parsing clinical exome VCF files. Gene annotations can be retrieved via Biomart integration from Ensemb…☆10May 7, 2017Updated 9 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 5 years ago
- A fork of the project Excavator2 from sourceforge.☆10Jun 29, 2017Updated 9 years ago
- Curated list of resources for variant prioritization☆16Nov 18, 2025Updated 11 months ago
- Variant Interpretation Pipeline☆52Oct 21, 2026Updated last week
- unofficial implementation of MUVERA: Multi-Vector Retrieval via Fixed Dimensional Encodings☆16Feb 18, 2026Updated 8 months ago
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Oct 21, 2026Updated last week
- Clin.iobio - Workflow and reporting for iobio variant analysis pipeline☆12Oct 7, 2025Updated last year
- Serverless GPU API endpoints on Runpod - Get Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- A phenotype-based tool for variant prioritization in WES and WGS data☆41Nov 21, 2022Updated 3 years ago
- Automated ACMG/AMP classification for human variants associated with congenital hearing loss☆11May 14, 2025Updated last year
- Pathogenicity prediction and prioritization of genetic variants.☆20Sep 21, 2026Updated last month
- ThermoFisher Ion Torrent plugin to detect fetal trisomies and estimate fetal fraction☆17Mar 23, 2018Updated 8 years ago
- ☆11Feb 26, 2025Updated last year
- LOVD3 development repository☆27Jun 26, 2026Updated 4 months ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 8 years ago
- Functional-trained variant effect predictor☆18Aug 27, 2026Updated 2 months ago
- GPUs on demand by Runpod - Special Offer Available • AdRun AI, ML, and HPC workloads on powerful cloud GPUs—without limits or wasted spend. Deploy GPUs in under a minute and pay by the second.
- A tool kit to manage many variant on desktop computer☆13Jan 13, 2026Updated 9 months ago
- A nextflow pipeline for calling CNVs in probe-enriched sequencing workflows☆14Oct 20, 2026Updated last week
- A fast, memory-efficient variant effect predictor written in Rust: a from-scratch reimplementation of the Ensembl Variant Effect Predicto…☆47Updated this week
- A package to convert cancer data to GA4GH phenopacket☆10Aug 5, 2025Updated last year
- ☆21Jun 23, 2023Updated 3 years ago
- Structural variant (SV) analysis tools☆42Jul 1, 2024Updated 2 years ago
- do some exercise☆15Dec 2, 2025Updated 10 months ago