Management of genomic big data in a country-wide collaborative initiative for rare disease gene finding.

About 1000 exomes 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 including: a) accelerating runtimes and increase sensitivity in the mapping and variant calling processes, b) the development of new visualization tools, c) Development of new systems-biology-based candidate gene prioritization methods.
The Medical Genome Project and the Spanish network for Rare Diseases constitute an example 
of collaborative country-wide genome project.
Wed, 04/12/2013 (All day) - Thu, 05/12/2013 (All day)
Fifth International Clinical Genomics & Informatics Europe event, Lisbon, Portugal
Dopazo-Lisbon-2013.zip12.66 MB