Cited 38 times in
The use of technical replication for detection of low-level somatic mutations in next-generation sequencing
DC Field | Value | Language |
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dc.contributor.author | 강훈철 | - |
dc.contributor.author | 김상우 | - |
dc.date.accessioned | 2019-07-11T03:17:38Z | - |
dc.date.available | 2019-07-11T03:17:38Z | - |
dc.date.issued | 2019 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/169911 | - |
dc.description.abstract | Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods are lacking. Herein, we describe a new computational method, called RePlow, that we developed to detect low-VAF somatic mutations based on simple, library-level replicates for next-generation sequencing on any platform. Through joint analysis of replicates, RePlow is able to remove prevailing background errors in next-generation sequencing analysis, facilitating remarkable improvement in the detection accuracy for low-VAF somatic mutations (up to ~99% reduction in false positives). The method is validated in independent cancer panel and brain tissue sequencing data. Our study suggests a new paradigm with which to exploit an overwhelming abundance of sequencing data for accurate variant detection. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Nature Pub. Group | - |
dc.relation.isPartOf | NATURE COMMUNICATIONS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Algorithms | - |
dc.subject.MESH | Brain/pathology | - |
dc.subject.MESH | Computational Biology/methods* | - |
dc.subject.MESH | DNA Mutational Analysis/methods* | - |
dc.subject.MESH | Gene Frequency/genetics | - |
dc.subject.MESH | Genome, Human/genetics | - |
dc.subject.MESH | High-Throughput Nucleotide Sequencing/methods | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Models, Statistical* | - |
dc.subject.MESH | Neoplasms/genetics | - |
dc.subject.MESH | Neoplasms/pathology | - |
dc.subject.MESH | Polymorphism, Single Nucleotide/genetics | - |
dc.subject.MESH | Whole Genome Sequencing/methods* | - |
dc.title | The use of technical replication for detection of low-level somatic mutations in next-generation sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Junho Kim | - |
dc.contributor.googleauthor | Dachan Kim | - |
dc.contributor.googleauthor | Jae Seok Lim | - |
dc.contributor.googleauthor | Ju Heon Maeng | - |
dc.contributor.googleauthor | Hyeonju Son | - |
dc.contributor.googleauthor | Hoon-Chul Kang | - |
dc.contributor.googleauthor | Hojung Nam | - |
dc.contributor.googleauthor | Jeong Ho Lee | - |
dc.contributor.googleauthor | Sangwoo Kim | - |
dc.identifier.doi | 10.1038/s41467-019-09026-y | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A00524 | - |
dc.relation.journalcode | J02293 | - |
dc.identifier.eissn | 2041-1723 | - |
dc.identifier.pmid | 30837471 | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | 강훈철 | - |
dc.contributor.affiliatedAuthor | 김상우 | - |
dc.citation.volume | 10 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 1047 | - |
dc.identifier.bibliographicCitation | NATURE COMMUNICATIONS, Vol.10(1) : 1047, 2019 | - |
dc.identifier.rimsid | 62493 | - |
dc.type.rims | ART | - |
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