Work Package 2: Genome variation analysis by next generation sequencing

Objectives

The cost reduction that NGS has brought to sequencing introduces a change of paradigm in the analysis of the genetic basis of the phenotype. Genome-wide sequencing of individuals and populations  becomes  affordable  and  an  attractive  possibility  to  scrutinize  entire  genome sequences for possible variations associated to diseases, traits of interest or a distinctive fingerprint. Analysis challenges that arise in these NGS applications are many and include accurate mapping, correct elimination of false positives, detection of indels and translocations, significant associations between genome variants and population characteristics, phylogenetic reconstructions from sequencing data, etc, etc. Many of these analytical tasks are transversal to different applications of NGS and hence solutions can be utilized in different analysis scenarios.

The specific objectives of the WP2 are:

O2.1 Improve the Consortium know-how in the analysis of genome sequencing data for biomedicine and biotechnology omics applications.

O2.2 Development of pipelines for efficient implementation of genome analysis routines.