PeSV-Fisher

Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

Geòrgia Escaramís, Cristian Tornador, Laia Bassaganyas, Raquel Rabionet, Jose M C Tubio, Alexander Martínez-Fundichely, Mario Cáceres, Marta Gut, Stephan Ossowski, Xavier P. Estivill

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.Availability:PeSV-Fisher is available at http://gd.crg.eu/tools.

Original languageEnglish
Article numbere63377
JournalPLoS One
Volume8
Issue number5
DOIs
Publication statusPublished - 21 May 2013
Externally publishedYes

Fingerprint

Genomic Structural Variation
Genetic Translocation
B-Cell Chronic Lymphocytic Leukemia
Genes
clonal variation
lymphocytic leukemia
genome
prediction
infancy
Genome
Technology
human diseases
Costs and Cost Analysis
sampling
Tumors
Blood
Pipelines
Research
Availability
Neoplasms

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

Escaramís, G., Tornador, C., Bassaganyas, L., Rabionet, R., Tubio, J. M. C., Martínez-Fundichely, A., ... Estivill, X. P. (2013). PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data. PLoS One, 8(5), [e63377]. https://doi.org/10.1371/journal.pone.0063377

PeSV-Fisher : Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data. / Escaramís, Geòrgia; Tornador, Cristian; Bassaganyas, Laia; Rabionet, Raquel; Tubio, Jose M C; Martínez-Fundichely, Alexander; Cáceres, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier P.

In: PLoS One, Vol. 8, No. 5, e63377, 21.05.2013.

Research output: Contribution to journalArticle

Escaramís, G, Tornador, C, Bassaganyas, L, Rabionet, R, Tubio, JMC, Martínez-Fundichely, A, Cáceres, M, Gut, M, Ossowski, S & Estivill, XP 2013, 'PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data', PLoS One, vol. 8, no. 5, e63377. https://doi.org/10.1371/journal.pone.0063377
Escaramís G, Tornador C, Bassaganyas L, Rabionet R, Tubio JMC, Martínez-Fundichely A et al. PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data. PLoS One. 2013 May 21;8(5). e63377. https://doi.org/10.1371/journal.pone.0063377
Escaramís, Geòrgia ; Tornador, Cristian ; Bassaganyas, Laia ; Rabionet, Raquel ; Tubio, Jose M C ; Martínez-Fundichely, Alexander ; Cáceres, Mario ; Gut, Marta ; Ossowski, Stephan ; Estivill, Xavier P. / PeSV-Fisher : Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data. In: PLoS One. 2013 ; Vol. 8, No. 5.
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