dc.contributor.author
May, Vinzenz
dc.contributor.author
Koch, Leonard
dc.contributor.author
Fischer-Zirnsak, Björn
dc.contributor.author
Horn, Denise
dc.contributor.author
Gehle, Petra
dc.contributor.author
Kornak, Uwe
dc.contributor.author
Beule, Dieter
dc.contributor.author
Holtgrewe, Manuel
dc.date.accessioned
2022-07-08T06:16:51Z
dc.date.available
2022-07-08T06:16:51Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/35412
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-35128
dc.description.abstract
Motivation: While the identification of small variants in panel sequencing data can be considered a solved problem, the identification of larger, multi-exon copy number variants (CNVs) still poses a considerable challenge. Thus, CNV calling has not been established in all laboratories performing panel sequencing. At the same time such laboratories have accumulated large data sets and thus have the need to identify copy number variants on their data to close the diagnostic gap.
Results: In this manuscript we present our method clearCNV that addresses this need in two ways. First, it helps laboratories to properly assign data sets to enrichment kits. Based on homogeneous subsets of data, clearCNV identifies CNVs affecting the targeted regions. Using real-world data sets and validation, we show that our method is highly competitive with previous methods and preferable in terms of specificity.
Availability: The software is available for free under a permissible license at {{https://github.com/bihealth/clear-cnv}}.
Supplementary Information: Supplementary data are available at Bioinformatics online.
en
dc.rights.uri
http://www.fu-berlin.de/sites/refubium/rechtliches/Nutzungsbedingungen
dc.subject
copy number variation
en
dc.subject
targeted sequencing
en
dc.subject
next-generation sequencing
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
btac418
dcterms.bibliographicCitation.doi
10.1093/bioinformatics/btac418
dcterms.bibliographicCitation.journaltitle
Bioinformatics
dcterms.bibliographicCitation.number
16
dcterms.bibliographicCitation.originalpublishername
Oxford University Press (OUP)
dcterms.bibliographicCitation.pagestart
3871
dcterms.bibliographicCitation.pageend
3876
dcterms.bibliographicCitation.volume
38
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.note.author
Original article first published: 2022-06-25.
en
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
35751599
dcterms.isPartOf.issn
1367-4803
dcterms.isPartOf.eissn
1460-2059