title: PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data.
abstract: Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the existence of higher complexity SVs in some genomes becomes more evident, but the detection and definition of most of these complex rearrangements is still in its infancy. The full characterization of SVs is a key aspect for discovering their biological implications. Here we present a pipeline (PeSV-Fisher) for the detection of deletions, gains, intra- and inter-chromosomal translocations, and inversions, at very reasonable computational costs. We further provide comprehensive information on co-localization of SVs in the genome, a crucial aspect for studying their biological consequences. The algorithm uses a combination of methods based on paired-reads and read-depth strategies. PeSV-Fisher has been designed with the aim to facilitate identification of somatic variation, and, as such, it is capable of analysing two or more samples simultaneously, producing a list of non-shared variants between samples. We tested PeSV-Fisher on available sequencing data, and compared its behaviour to that of frequently deployed tools (BreakDancer and VariationHunter). We have also tested this algorithm on our own sequencing data, obtained from a tumour and a normal blood sample of a patient with chronic lymphocytic leukaemia, on which we have also validated the results by targeted re-sequencing of different kinds of predictions. This allowed us to determine confidence parameters that influence the reliability of breakpoint predictions.
  
  
  BACKGROUND
  PeSV-Fisher is available at http://gd.crg.eu/tools.
authors.affiliation: Genetic Causes of Disease Group, Centre for Genomic Regulation (CRG), Barcelona, Spain.
authors.forename: Geòrgia
authors.initials: G
authors.lastname: Escaramís
authors.forename: Cristian
authors.initials: C
authors.lastname: Tornador
authors.forename: Laia
authors.initials: L
authors.lastname: Bassaganyas
authors.forename: Raquel
authors.initials: R
authors.lastname: Rabionet
authors.forename: Jose M C
authors.initials: JM
authors.lastname: Tubio
authors.forename: Alexander
authors.initials: A
authors.lastname: Martínez-Fundichely
authors.forename: Mario
authors.initials: M
authors.lastname: Cáceres
authors.forename: Marta
authors.initials: M
authors.lastname: Gut
authors.forename: Stephan
authors.initials: S
authors.lastname: Ossowski
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000465:Algorithms; D019295:Computational Biology; D030541:Databases, Genetic; D015894:Genome, Human / Q000235:genetics; D056914:Genomic Structural Variation / Q000235:genetics*; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*