Databases, biobanks and clinical bio-informatics hub for rare diseases
Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data type and by disease. Individual efforts have little interoperability and almost no systematic connection of detailed clinical information with genetic information, biomaterial availability or...
Coordinator: Hanns Lochmüller
The Genomic study of Chronic Lymphocytic Leukaemia
The International Cancer Genome Consortium is an international effort to establish a comprehensive descriptionof genomic, transcriptomic and epigenomic changes in50 different tumor types and/or subtypes which are of clinical and societal importance across the globe. Spain’scontribution to the ICGC...
Coordinator: Elias Campo & Carlos López-Otín
Elucidating structural variation in primate genomes
The PRIMATE project aims to discover the extent of genome structural polymorphism within the great ape species by generating next-generation sequencing datasets at high coverage from multiple individuals of diverse species and subspecies, characterizing structural variants and validating them...
Coordinator: Tomàs Marquès-Bonet