14 19

Cited 0 times in

Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations

DC FieldValueLanguage
dc.contributor.author원동주-
dc.contributor.author이승태-
dc.contributor.author김보람-
dc.contributor.author최종락-
dc.contributor.author김세희-
dc.contributor.author강훈철-
dc.date.accessioned2020-09-28T12:13:47Z-
dc.date.available2020-09-28T12:13:47Z-
dc.date.issued2020-06-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/179351-
dc.description.abstractGenetic diagnosis of patients with neurodevelopmental disorders is imperative and a standard clinical practice. Considering the continuous accumulation of data on disease-causing variants, reanalysis of previously established sequencing data is important. Periodic reanalysis of variants with uncertain significance has become mandatory in clinical laboratories. Therefore, to confirm the utility of the reanalysis of targeted gene panel data in clinical laboratories, we re-evaluated the data of two groups of patients who had undergone targeted gene panel testing for neurodevelopmental disorders (n = 116) and epileptic encephalopathy (n = 384). This reanalysis was based on a reannotation process reflecting updated databases. Six (5.2%) and seven (1.8%) new pathogenic or likely pathogenic variants were identified in these two groups, respectively, attributable to the updated guidelines and de novo reports from unrelated patients. Although relatively low, considerable increase in the diagnostic yield was confirmed. We suggest that reanalysis of genetic variants, mainly using changes in databases and updated interpretations, should be implemented as a routine practice in clinical laboratories.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherFrontiers Research Foundation-
dc.relation.isPartOfFRONTIERS IN NEUROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleReanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorDongju Won-
dc.contributor.googleauthorSe Hee Kim-
dc.contributor.googleauthorBorahm Kim-
dc.contributor.googleauthorSeung-Tae Lee-
dc.contributor.googleauthorHoon-Chul Kang-
dc.contributor.googleauthorJong Rak Choi-
dc.identifier.doi10.3389/fneur.2020.00612-
dc.contributor.localIdA05763-
dc.contributor.localIdA04627-
dc.contributor.localIdA04627-
dc.contributor.localIdA05615-
dc.contributor.localIdA05615-
dc.contributor.localIdA04182-
dc.contributor.localIdA04182-
dc.contributor.localIdA00611-
dc.contributor.localIdA00611-
dc.contributor.localIdA00102-
dc.contributor.localIdA00102-
dc.relation.journalcodeJ02996-
dc.identifier.eissn1664-2295-
dc.identifier.pmid32695065-
dc.subject.keywordclinical laboratories-
dc.subject.keywordepileptic encephalopathy-
dc.subject.keywordneurodevelopmental disorder-
dc.subject.keywordnext-generation sequencing-
dc.subject.keywordreanalysis-
dc.contributor.alternativeNameWon, Dongju-
dc.contributor.affiliatedAuthor원동주-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor김보람-
dc.contributor.affiliatedAuthor김보람-
dc.contributor.affiliatedAuthor최종락-
dc.contributor.affiliatedAuthor최종락-
dc.contributor.affiliatedAuthor김세희-
dc.contributor.affiliatedAuthor김세희-
dc.contributor.affiliatedAuthor강훈철-
dc.contributor.affiliatedAuthor강훈철-
dc.citation.volume11-
dc.citation.startPage612-
dc.identifier.bibliographicCitationFRONTIERS IN NEUROLOGY, Vol.11 : 612, 2020-06-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

qrcode

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