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On the power and the systematic biases of the detection of chromosomal inversions by paired-end genome sequencing
Lucas Lledó, José Ignacio (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Cáceres Aguilar, Mario, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)

Data: 2013
Resum: One of the most used techniques to study structural variation at a genome level is paired-end mapping (PEM). PEM has the advantage of being able to detect balanced events, such as inversions and translocations. However, inversions are still quite difficult to predict reliably, especially from high-throughput sequencing data. We simulated realistic PEM experiments with different combinations of read and library fragment lengths, including sequencing errors and meaningful base-qualities, to quantify and track down the origin of false positives and negatives along sequencing, mapping, and downstream analysis. We show that PEM is very appropriate to detect a wide range of inversions, even with low coverage data. However, % of inversions located between segmental duplications are expected to go undetected by the most common sequencing strategies. In general, longer DNA libraries improve the detectability of inversions far better than increments of the coverage depth or the read length. Finally, we review the performance of three algorithms to detect inversions —SVDetect, GRIAL, and VariationHunter—, identify common pitfalls, and reveal important differences in their breakpoint precisions. These results stress the importance of the sequencing strategy for the detection of structural variants, especially inversions, and offer guidelines for the design of future genome sequencing projects.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès.
Document: article ; publishedVersion
Publicat a: PLoS one, Vol. 8, Issue 4 (April 2013) , p. e61292, ISSN 1932-6203

DOI: 10.1371/journal.pone.0061292
PMID: 23637806

12 p, 1.5 MB

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