Document Detail

CLEVER: Clique-Enumerating Variant Finder.
MedLine Citation:
PMID:  23060616     Owner:  NLM     Status:  Publisher    
MOTIVATION: Next-generation sequencing techniques have facilitated large scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most sequenced individuals. RESULTS: Here we present a novel internal segment size based approach, which organizes all, including concordant, reads into a read alignment graph where max-cliques represent maximal contradiction-free groups of alignments. A novel algorithm then enumerates all max-cliques and statistically evaluates them for their potential to reflect insertions or deletions. For the first time in the literature, we compare a large range of state-of-the-art approaches using simulated Illumina reads from a fully annotated genome and present relevant performance statistics. We achieve superior performance in particular for indels of length 20-100nt. This has been previously identified as a remaining major challenge in structural variation discovery, in particular for insert size based approaches. In this size range we outperform even split read aligners. We achieve competitive results also on biological data where our method is the only one to make a substantial amount of correct predictions, which, additionally, are disjoint from those by split-read aligners. AVAILABILITY: CLEVER is open source (GPL) and available from CONTACT:
Tobias Marschall; Ivan Costa; Stefan Canzar; Markus Bauer; Gunnar W Klau; Alexander Schliep; Alexander Schönhuth
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-11
Journal Detail:
Title:  Bioinformatics (Oxford, England)     Volume:  -     ISSN:  1367-4811     ISO Abbreviation:  Bioinformatics     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808944     Medline TA:  Bioinformatics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Centrum Wiskunde & Informatica, Amsterdam, the Netherlands, Federal University of Pernambuco, Recife, Brazil, Illumina, Cambridge, UK, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
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