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RepeatALS - Genome-wide analysis of DNA tandem repeats in ALS: the role of Repeatome

Contraente: Arisla - Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica

Tipo: Progetto nazionale

Algoritmica per bioinformatica

  • Performing a comprehensive genome-wide study of TRPs in all gene regions. Different tools and approaches will be utilized in order identify the largest number of polymorphic TRs.
  • Creating a “Repeatome” kit for the analysis of TRPs. A targeted re-sequencing approach will be performed. Considering the complexity of the analysis, we will initially focus our analysis on all identified TRPs localized in the genomic regions with a potentially higher causal impact on disease, namely the genes (exons, introns, UTRs) and their 5’ flanking regions
  • Identifying expanded TRPs implicated in ALS pathogenesis.
  • Validating the expanded TRPs identified with the “Repeatome” kit by means of more traditional techniques
  • Replicating the potential involvement in ALS pathogenesis of validated expanded TRPs in larger ALS cohorts

Dal 01/02/2014 al 31/01/2015