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Management of Genomic Big Data in a Country-wide Collaborative Initiative for Rare Disease Gene Finding.

The Medical Genome Project and the Spanish network for Rare Diseases constitute an example of collaborative country-wide genome project. Both institutions fostered the sequencing of about 1000 exomes, which were analyzed in a country-wide initiative to find disease genes in many inherited diseases. This flood of DNA and RNA-seq data led to the optimization of pipelines for NGS data analysis in three main aspects: a) accelerating runtimes and increase sensitivity in the mapping and variant calling processes, which has led us to develop new QC control, data management and mapping strategies. In particular, the HPG-aligner maps reads quicker and more precisely that any other available NGS sequence mapper (documentation and software: b) the development of new visualization tools. One of them, the GenomeMaps ( has been adopted as the official genome viewer of the ICGC (, c) Development of new systems-biology-based candidate gene prioritization methods. Tools for network analysis recently developed are of much help in the search for new candidate genes. Currently more than 800 exomes corresponding to more than 40 diseases have been analyzed.

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