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dc.contributor.authorKondrashova, O
dc.contributor.authorLove, CJ
dc.contributor.authorLunke, S
dc.contributor.authorHsu, AL
dc.contributor.authorBowtell, D
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorGreen, A
dc.contributor.authorWebb, P
dc.contributor.authorDeFazio, A
dc.contributor.authorGertig, D
dc.contributor.authorTraficante, N
dc.contributor.authorFereday, S
dc.contributor.authorMoore, S
dc.contributor.authorLinks, M
dc.contributor.authoret al.
dc.date.accessioned2020-02-20T23:47:25Z
dc.date.available2020-02-20T23:47:25Z
dc.date.issued2015
dc.identifier.issn1932-6203
dc.identifier.doi10.1371/journal.pone.0143006
dc.identifier.urihttp://hdl.handle.net/10072/391761
dc.description.abstractWhilst next generation sequencing can report point mutations in fixed tissue tumour samples reliably, the accurate determination of copy number is more challenging. The conventional Multiplex Ligation-dependent Probe Amplification (MLPA) assay is an effective tool for measurement of gene dosage, but is restricted to around 50 targets due to size resolution of the MLPA probes. By switching from a size-resolved format, to a sequence-resolved format we developed a scalable, high-throughput, quantitative assay. MLPA-seq is capable of detecting deletions, duplications, and amplifications in as little as 5ng of genomic DNA, including from formalin-fixed paraffin-embedded (FFPE) tumour samples. We show that this method can detect BRCA1, BRCA2, ERBB2 and CCNE1 copy number changes in DNA extracted from snap-frozen and FFPE tumour tissue, with 100% sensitivity and >99.5% specificity.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherPublic Library of Science (PLoS)
dc.relation.ispartofissue11
dc.relation.ispartofjournalPLoS One
dc.relation.ispartofvolume10
dc.subject.fieldofresearchBiomedical and clinical sciences
dc.subject.fieldofresearchcode32
dc.titleHigh-throughput amplicon-based copy number detection of 11 genes in formalin-fixed paraffin-embedded ovarian tumour samples by MLPA-seq
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationKondrashova, et al., High-throughput amplicon-based copy number detection of 11 genes in formalin-fixed paraffin-embedded ovarian tumour samples by MLPA-seq, PLoS One, 2015, 10 (11)
dcterms.dateAccepted2015-10-29
dcterms.licensehttp://creativecommons.org/licenses/by/4.0/
dc.date.updated2020-02-20T23:42:47Z
dc.description.versionVersion of Record (VoR)
gro.rights.copyright© 2015 Kondrashova et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
gro.hasfulltextFull Text
gro.griffith.authorLinks, Matthew J.
gro.griffith.authorHung, Jillian A.


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