Reference : Identification of large-scale genomic variation in cancer genomes using in silico ref...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/22054
Identification of large-scale genomic variation in cancer genomes using in silico reference models
English
Killcoyne, Sarah mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
del Sol Mesa, Antonio mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
11-Aug-2015
Nucleic Acids Research
Oxford University Press
Yes (verified by ORBilu)
International
0305-1048
1362-4962
Oxford
United Kingdom
[en] Cancer ; structural variation ; computational
[en] Identifying large-scale structural variation in cancer genomes continues to be a challenge to researchers. Current methods rely on genome alignments based on a reference that can be a poor fit to highly variant and complex tumor genomes. To address this challenge we developed a method that uses available breakpoint information to generate models of structural variations. We use these models as references to align previously unmapped and discordant reads from a genome. By using these models to align unmapped reads, we show that our method can help to identify large-scale variations that have been previously missed.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) ; University of Luxembourg: High Performance Computing - ULHPC ; Luxembourg Centre for Systems Biomedicine (LCSB): Computational Biology (Del Sol Group)
Researchers
http://hdl.handle.net/10993/22054
10.1093/nar/gkv828
http://nar.oxfordjournals.org/content/early/2015/08/11/nar.gkv828.full
FnR ; FNR4717849 > Sarah Killcoyne > IGCSA > Insilico genomes for high-throughput sequencing cancer-specific analysis > 01/10/2012 > 14/09/2015 > 2012

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