DC1 FRANCISCO JAVIER SUÁREZ LÓPEZ
March 2026; Development of a preliminar pipeline for basecaller fine-tuning using the Bonito tool from Oxford Nanopore, together with initial tests aimed at improving DM2 basecalling. These tests were carried out on single individuals to verify that the pipeline performed as intended.
April 2026: Refinement of the Bonito-based fine-tuning pipeline, confirmation of its correct and unbiased performance, and development of the final leave-one-out (LOO) validation strategy. Comparison of the Bonito fine-tuned pipeline results with ONT data basecalled with the classical Dorado approach and with PacBio data.
May 2026: Preparation of figure and text for the manuscript: "Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2" Exploratory methylation analysis of DM1 samples sequenced with PacBio. Attendance to the 22nd Annual Conference of the Bioinformatics Italian Society.
June 2026: Preparation of figure and text for the manuscript: "Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2" subsequently published on bioRxiv (https://doi.org/10.64898/2026.06.06.730578).
July 2026: Revision of the preprint and preparation of Deliverable D1, "Protocols to characterize DM mutations".
August 2026: Submission of Deliverable D1.1, "Protocols to characterise DM mutations".