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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


Loredana Marialuisa Genovese

Foto di Loredana Marialuisa Genovese

Giovanni Manzini

Foto di Giovanni Manzini

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