Published March 4, 2026 | Version v2

Single Clone based Instability Assay GUI

  • 1. ROR icon Cardiff University

Contributors

Researcher:

  • 1. ROR icon Cardiff University

Description

Single Clone based Instability Assay (SCIA) GUI is a cross-platform graphical application for analyzing repeat instability from long read sequencing data. It integrates the deterministic Repeat Detector (RD) algorithm with downstream instability quantification, delta distribution analysis, statistical comparison and visualization.

This cross-platform software provides complete workflow from raw FASTA files to instability indices and comparitive statistical outputs without the need of command line input(CLI).

The current repeat detector profile is configured for Huntington disease(CAG repeat disorder).

Note:Windows GUI updated in this version

Files

GUI_publish_v1_Feb2026_mac.zip

Files (2.9 GB)

Name Size
md5:81ea919464ace3da8c28e0407568ee3b
516.4 MB Preview Download
md5:69d5dbc11b43d4f925ceeaa34b69b642
127.6 MB Preview Download
md5:ffc08bc3b0f7002c9d1691ca76538c4c
2.2 GB Download

Additional details

Funding

UK Dementia Research Institute
UKDRI 3204

Software

Repository URL
https://github.com/DionLab/SCIA
Programming language
Python
Development Status
Active