Data integration utilized custom bioinformatics pipeline. Following the analysis, we observe 1) a repeat length quantification that broadly correlates clinical data but exhibiting events of somatic expansion and non-homogeneous repeat motifs. 2) We identify regions of differential methylation near promoters that correspond to 3) genes exhibiting significant changes in expression. We 4) evaluated LRS-enabled alternative splicing/poly-A tailing detection and 5) assessed if the levels of differential methylation/expression correlate to increased repeat length. This project should consolidate the potential of LRS in clinical genetics and functional studies. Regarding FRDA, results should provide new insights into pathogenic mechanisms and potentially identify molecular signatures of the disease, assisting in the search for new therapeutic targets.
Monday, October 12, 2026
Exploring the molecular landscape of Friedreich ataxia with long-read sequencing
Sebastien Audet, Marjorie Labrecque, Valerie Triassi, Carolane Charest, Adrien Rihoux, Laura Hamilton, Grace Yoon, Antoine Duquette, Martine Tetreault,
1.45P Exploring the molecular landscape of Friedreich ataxia with long-read sequencing, Neuromuscular Disorders, Volume 67, Supplement 1, 2026, 106600, ISSN 0960-8966, doi:10.1016/j.nmd.2026.106600.
