
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
Tandem Repeat Sequences/genetics, Tandem Repeat Sequences, Trinucleotide Repeats/genetics, Microsatellite Repeats/genetics
Tandem Repeat Sequences/genetics, Tandem Repeat Sequences, Trinucleotide Repeats/genetics, Microsatellite Repeats/genetics
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