397 629

Cited 38 times in

The use of technical replication for detection of low-level somatic mutations in next-generation sequencing

DC Field Value Language
dc.contributor.author강훈철-
dc.contributor.author김상우-
dc.date.accessioned2019-07-11T03:17:38Z-
dc.date.available2019-07-11T03:17:38Z-
dc.date.issued2019-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/169911-
dc.description.abstractAccurate 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.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherNature Pub. Group-
dc.relation.isPartOfNATURE COMMUNICATIONS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAlgorithms-
dc.subject.MESHBrain/pathology-
dc.subject.MESHComputational Biology/methods*-
dc.subject.MESHDNA Mutational Analysis/methods*-
dc.subject.MESHGene Frequency/genetics-
dc.subject.MESHGenome, Human/genetics-
dc.subject.MESHHigh-Throughput Nucleotide Sequencing/methods-
dc.subject.MESHHumans-
dc.subject.MESHModels, Statistical*-
dc.subject.MESHNeoplasms/genetics-
dc.subject.MESHNeoplasms/pathology-
dc.subject.MESHPolymorphism, Single Nucleotide/genetics-
dc.subject.MESHWhole Genome Sequencing/methods*-
dc.titleThe use of technical replication for detection of low-level somatic mutations in next-generation sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorJunho Kim-
dc.contributor.googleauthorDachan Kim-
dc.contributor.googleauthorJae Seok Lim-
dc.contributor.googleauthorJu Heon Maeng-
dc.contributor.googleauthorHyeonju Son-
dc.contributor.googleauthorHoon-Chul Kang-
dc.contributor.googleauthorHojung Nam-
dc.contributor.googleauthorJeong Ho Lee-
dc.contributor.googleauthorSangwoo Kim-
dc.identifier.doi10.1038/s41467-019-09026-y-
dc.contributor.localIdA00102-
dc.contributor.localIdA00524-
dc.relation.journalcodeJ02293-
dc.identifier.eissn2041-1723-
dc.identifier.pmid30837471-
dc.contributor.alternativeNameKang, Hoon Chul-
dc.contributor.affiliatedAuthor강훈철-
dc.contributor.affiliatedAuthor김상우-
dc.citation.volume10-
dc.citation.number1-
dc.citation.startPage1047-
dc.identifier.bibliographicCitationNATURE COMMUNICATIONS, Vol.10(1) : 1047, 2019-
dc.identifier.rimsid62493-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.