VALOR2: characterization of large-scale structural variants using linked-reads
buir.contributor.author | Karaoğlanoğlu, Fatih | |
buir.contributor.author | Ebren, Ezgi | |
buir.contributor.author | Alkan, Can | |
dc.citation.issueNumber | 72 | en_US |
dc.citation.volumeNumber | 21 | en_US |
dc.contributor.author | Karaoğlanoğlu, Fatih | en_US |
dc.contributor.author | Ricketts, C. | en_US |
dc.contributor.author | Ebren, Ezgi | en_US |
dc.contributor.author | Rasekh, M. E. | en_US |
dc.contributor.author | Hajirasouliha, I. | en_US |
dc.contributor.author | Alkan, Can | en_US |
dc.date.accessioned | 2021-02-17T12:43:04Z | |
dc.date.available | 2021-02-17T12:43:04Z | |
dc.date.issued | 2020-03 | |
dc.department | Department of Computer Engineering | en_US |
dc.description.abstract | Most 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.provenance | Submitted 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.provenance | Made 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: 2020-03 | en |
dc.identifier.doi | 10.1186/s13059-020-01975-8 | en_US |
dc.identifier.issn | 1474-760X | |
dc.identifier.uri | http://hdl.handle.net/11693/75408 | |
dc.language.iso | English | en_US |
dc.publisher | BioMed Central Ltd. | en_US |
dc.relation.isversionof | https://doi.org/10.1186/s13059-020-01975-8 | en_US |
dc.source.title | Genome Biology | en_US |
dc.subject | Structural variation | en_US |
dc.subject | Linked-reads | en_US |
dc.subject | WGS | en_US |
dc.title | VALOR2: characterization of large-scale structural variants using linked-reads | en_US |
dc.type | Article | en_US |
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