1st semester

DC1 FRANCISCO JAVIER SUAREZ LOPEZ 

 

September 2025: Arrival at the host laboratory and initial familiarization with ongoing project, datasets, pipelines and literature. Training in the bioinformatic tools and workflows used for data processing and downstream analyses.

October 2025:  In-depth study and implementation of software tools for the visualization and interpretation of repeat patterns, length and mosaicism in DM2.

November 2025: Integration and comparison of multi-platform LRS sequencing data to support, validate and refine tandem repeat characterization in DM2. 

December 2025: Continued LRS data analysis to characterize DM2 repeat expansions, including initiation of comprehensive methylation analyses, data visualization and refinement of analytical tools. 

January 2026: Evaluation and benchmarking of tools for methylation data extraction, analysis, and visualization. Refinement of analytical workflows to ensure accurate detection and interpretation of methylation patterns in DM2. First ENTRY-DM network-wide training event in Paris.

February 2026: Analyses of methylation profile and consolidation of results.