February 27, 2025 • Estimated Reading Time: 1 minute
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The study by Al-Abri & Gursoy (2025) introduces ScatTR, a new computational tool designed to estimate the size of long tandem repeat (TR) expansions from short-read sequencing data. These TR expansions are significant because they are associated with various conditions, including Friedreich's ataxia. ScatTR uses a maximum likelihood approach to align sequencing reads with reference sequences representing different TR lengths, and it employs a Monte Carlo method to determine the most accurate match.
In tests with simulated data, ScatTR was more accurate than existing methods, especially for TRs with longer motifs and expansions beyond the length of typical sequencing fragments. When used on real-world data from the 1000 Genomes Project, ScatTR identified large TR expansions that other methods did not detect. This suggests that ScatTR could improve the genome-wide identification of TR variations, which is crucial for understanding and diagnosing conditions like Friedreich's ataxia.
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