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 Advanced Genomics Computing Technology

sequencing concept image

The CRS4 Advanced Genomics Computing Technology (AGCT) group's research and development focuses on Computational Genomics.

The AGCT group's main activities are:

  • design and development of computational tools for genomics data handling;
  • processing of sequencing and genotyping data to support biologists, geneticians and medical doctors in their research activities.


The group collaborates very closely with the CRS4 Sequencing and Genotyping Platform and the High Performance Computing and Network facility: together they constitute the biggest genome sequencing facility in Italy at the moment. The sequencing core is equipped with three of the new Illumina HiSeq 2000 machines and two Illumina GAIIx, with a sequencing capacity of more than 2000 Gbase per month. 

CRS4 is currently sequencing the DNA of 1000 Sardinian people for a Genome Wide Association Study (GWAS). Study aims to discover genes underlying the autoimmune diseases Type 1 Diabetes and Multiple Sclerosis, which are abnormally highly found in Sardinia. Studies are continuing with the sequencing of 1000 Sardinian people’s RNA, to analyze expression levels of genes involved in mechanisms of pathogenesis.

The AGCT group responsibility is:

  • to perform quality control and statistical analysis of sequenced data;
  • to design and implement new computational pipelines.


The international research projects in which AGCT group is involved, are carried out in collaboration with:

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari

Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor

Laboratory of Genetics, USA National Institute on Aging, Baltimore

The PROGENIA project, Lanusei