Single Clone based Instability Assay GUI

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Authors: Ruban Rex Peter Durairaj, Vincent Dion, Christopher Smith
Cited by: 0

Abstract

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:Mac GUI updated in this version with customizable trimming of unwanted peaks and forcing the delta plot to use mode of control for off-setting, for better comparisonAdded Windows GUI latest version with the same modifications as mentioned above.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Genetic factors in colorectal cancer Genomics and Rare Diseases

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
3 March 2026
Language
EN