VALOR2: characterization of large-scale structural variants using linked-reads

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buir.contributor.authorKaraoğlanoğlu, Fatih
buir.contributor.authorEbren, Ezgi
buir.contributor.authorAlkan, Can
dc.citation.issueNumber72en_US
dc.citation.volumeNumber21en_US
dc.contributor.authorKaraoğlanoğlu, Fatihen_US
dc.contributor.authorRicketts, C.en_US
dc.contributor.authorEbren, Ezgien_US
dc.contributor.authorRasekh, M. E.en_US
dc.contributor.authorHajirasouliha, I.en_US
dc.contributor.authorAlkan, Canen_US
dc.date.accessioned2021-02-17T12:43:04Z
dc.date.available2021-02-17T12:43:04Z
dc.date.issued2020-03
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractMost existing methods for structural variant detection focus on discovery and genotyping of deletions, insertions, and mobile elements. Detection of balanced structural variants with no gain or loss of genomic segments, for example, inversions and translocations, is a particularly challenging task. Furthermore, there are very few algorithms to predict the insertion locus of large interspersed segmental duplications and characterize translocations. Here, we propose novel algorithms to characterize large interspersed segmental duplications, inversions, deletions, and translocations using linked-read sequencing data. We redesign our earlier algorithm, VALOR, and implement our new algorithms in a new software package, called VALOR2.en_US
dc.description.provenanceSubmitted by Evrim Ergin (eergin@bilkent.edu.tr) on 2021-02-17T12:43:04Z No. of bitstreams: 1 VALOR2_Characterization_of_large-scale_structural_variants_using_linked-reads.pdf: 709564 bytes, checksum: ade1065ca701a83876c461d3fbca4e31 (MD5)en
dc.description.provenanceMade available in DSpace on 2021-02-17T12:43:04Z (GMT). No. of bitstreams: 1 VALOR2_Characterization_of_large-scale_structural_variants_using_linked-reads.pdf: 709564 bytes, checksum: ade1065ca701a83876c461d3fbca4e31 (MD5) Previous issue date: 2020-03en
dc.identifier.doi10.1186/s13059-020-01975-8en_US
dc.identifier.issn1474-760X
dc.identifier.urihttp://hdl.handle.net/11693/75408
dc.language.isoEnglishen_US
dc.publisherBioMed Central Ltd.en_US
dc.relation.isversionofhttps://doi.org/10.1186/s13059-020-01975-8en_US
dc.source.titleGenome Biologyen_US
dc.subjectStructural variationen_US
dc.subjectLinked-readsen_US
dc.subjectWGSen_US
dc.titleVALOR2: characterization of large-scale structural variants using linked-readsen_US
dc.typeArticleen_US

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