Data di Pubblicazione:
2011
Citazione:
Characterizing Structural Variation in Genomes (from humans to crops) / M. Chiara, D.S. Horner. ((Intervento presentato al 6. convegno European Workshop Genomics for research and molecular diagnostic tenutosi a Lodi nel 2011.
Abstract:
Several bioinformatics methods have been proposed for the detection and characterization of
genomic structural variation from ultra-high throughput genome resequencing data. Although some of
these methods demonstrate reasonably high specificity, the sensitivity of available approaches is
rather low. We propose a novel method for the identification of genomic structural variation from high
throughput paired end genome resequencing data. While utilizing deviations from expected library
insert sizes, our approach employs additional information from local patterns of read mapping and
supervised learning to predict the position and nature of structural variants. We show that our method
shows notably increased sensitivity at no cost in specificity with respect to existing insert size-based
tools in the identification of structural variants in the human genome. Furthermore, we show that the
additional information incorporated in our approach allow us to make reliable predictions of very short
insertions and deletions that are otherwise only recovered by approaches based on the split mapping
of resequencing reads.
Tipologia IRIS:
14 - Intervento a convegno non pubblicato
Elenco autori:
M. Chiara, D.S. Horner
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