Cited 673 times in
Anchored multiplex PCR for targeted next-generation sequencing.
DC Field | Value | Language |
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dc.contributor.author | 심효섭 | - |
dc.date.accessioned | 2015-12-28T11:03:39Z | - |
dc.date.available | 2015-12-28T11:03:39Z | - |
dc.date.issued | 2014 | - |
dc.identifier.issn | 1078-8956 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/138607 | - |
dc.description.abstract | We describe a rapid target enrichment method for next-generation sequencing, termed anchored multiplex PCR (AMP), that is compatible with low nucleic acid input from formalin-fixed paraffin-embedded (FFPE) specimens. AMP is effective in detecting gene rearrangements (without prior knowledge of the fusion partners), single nucleotide variants, insertions, deletions and copy number changes. Validation of a gene rearrangement panel using 319 FFPE samples showed 100% sensitivity (95% confidence limit: 96.5-100%) and 100% specificity (95% confidence limit: 99.3-100%) compared with reference assays. On the basis of our experience with performing AMP on 986 clinical FFPE samples, we show its potential as both a robust clinical assay and a powerful discovery tool, which we used to identify new therapeutically important gene fusions: ARHGEF2-NTRK1 and CHTOP-NTRK1 in glioblastoma, MSN-ROS1, TRIM4-BRAF, VAMP2-NRG1, TPM3-NTRK1 and RUFY2-RET in lung cancer, FGFR2-CREB5 in cholangiocarcinoma and PPL-NTRK1 in thyroid carcinoma. AMP is a scalable and efficient next-generation sequencing target enrichment method for research and clinical applications. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 1479~1484 | - |
dc.relation.isPartOf | NATURE MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Bile Duct Neoplasms/genetics* | - |
dc.subject.MESH | Cholangiocarcinoma/genetics* | - |
dc.subject.MESH | Gene Fusion/genetics* | - |
dc.subject.MESH | Gene Rearrangement/genetics* | - |
dc.subject.MESH | Glioblastoma/genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Lung Neoplasms/genetics* | - |
dc.subject.MESH | Multiplex Polymerase Chain Reaction/methods* | - |
dc.subject.MESH | Paraffin Embedding | - |
dc.subject.MESH | Polymerase Chain Reaction | - |
dc.subject.MESH | Sequence Analysis, DNA/methods* | - |
dc.subject.MESH | Thyroid Neoplasms/genetics* | - |
dc.title | Anchored multiplex PCR for targeted next-generation sequencing. | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pathology (병리학) | - |
dc.contributor.googleauthor | Zongli Zheng | - |
dc.contributor.googleauthor | Matthew Liebers | - |
dc.contributor.googleauthor | Boryana Zhelyazkova | - |
dc.contributor.googleauthor | Yi Cao | - |
dc.contributor.googleauthor | Divya Panditi | - |
dc.contributor.googleauthor | Kerry D Lynch | - |
dc.contributor.googleauthor | Juxiang Chen | - |
dc.contributor.googleauthor | Hayley E Robinson | - |
dc.contributor.googleauthor | Hyo Sup Shim | - |
dc.contributor.googleauthor | Juliann Chmielecki | - |
dc.contributor.googleauthor | William Pao | - |
dc.contributor.googleauthor | Jeffrey A Engelman | - |
dc.contributor.googleauthor | A John Iafrate | - |
dc.contributor.googleauthor | Long Phi Le | - |
dc.identifier.doi | 10.1038/nm.3729 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A02219 | - |
dc.relation.journalcode | J02296 | - |
dc.identifier.eissn | 1546-170X | - |
dc.identifier.pmid | 25384085 | - |
dc.identifier.url | http://www.nature.com/nm/journal/v20/n12/full/nm.3729.html | - |
dc.contributor.alternativeName | Shim, Hyo Sup | - |
dc.contributor.affiliatedAuthor | Shim, Hyo Sup | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 20 | - |
dc.citation.number | 12 | - |
dc.citation.startPage | 1479 | - |
dc.citation.endPage | 1484 | - |
dc.identifier.bibliographicCitation | NATURE MEDICINE, Vol.20(12) : 1479-1484, 2014 | - |
dc.identifier.rimsid | 38440 | - |
dc.type.rims | ART | - |
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