Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
DC Field | Value | Language |
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dc.contributor.author | Bae, Jun-Seok | - |
dc.contributor.author | Kim, Nayoung K. D. | - |
dc.contributor.author | Lee, Chung | - |
dc.contributor.author | Kim, Sang Cheol | - |
dc.contributor.author | Lee, Hey Ran | - |
dc.contributor.author | Song, Hae-Ryong | - |
dc.contributor.author | Park, Kun Bo | - |
dc.contributor.author | Kim, Hyun Woo | - |
dc.contributor.author | Lee, Soon Hyuck | - |
dc.contributor.author | Kim, Ha Yong | - |
dc.contributor.author | Lee, Soon Chul | - |
dc.contributor.author | Jeong, Changhoon | - |
dc.contributor.author | Park, Moon Seok | - |
dc.contributor.author | Yoo, Won Joon | - |
dc.contributor.author | Chung, Chin Youb | - |
dc.contributor.author | Choi, In Ho | - |
dc.contributor.author | Kim, Ok-Hwa | - |
dc.contributor.author | Park, Woong-Yang | - |
dc.contributor.author | Cho, Tae-Joon | - |
dc.date.accessioned | 2021-09-03T23:24:56Z | - |
dc.date.available | 2021-09-03T23:24:56Z | - |
dc.date.created | 2021-06-18 | - |
dc.date.issued | 2016-06 | - |
dc.identifier.issn | 1098-3600 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/88516 | - |
dc.description.abstract | Purpose: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. Methods: A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family. Results: TES detected "confirmed" or "highly likely" pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis. Conclusion: This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.subject | OSTEOGENESIS IMPERFECTA | - |
dc.subject | MUTATION | - |
dc.subject | AMPLIFICATION | - |
dc.subject | DISORDERS | - |
dc.subject | ACCURATE | - |
dc.subject | GENOME | - |
dc.subject | WNT1 | - |
dc.title | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Song, Hae-Ryong | - |
dc.contributor.affiliatedAuthor | Lee, Soon Hyuck | - |
dc.identifier.doi | 10.1038/gim.2015.129 | - |
dc.identifier.scopusid | 2-s2.0-84975069873 | - |
dc.identifier.wosid | 000378184300004 | - |
dc.identifier.bibliographicCitation | GENETICS IN MEDICINE, v.18, no.6, pp.563 - 569 | - |
dc.relation.isPartOf | GENETICS IN MEDICINE | - |
dc.citation.title | GENETICS IN MEDICINE | - |
dc.citation.volume | 18 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 563 | - |
dc.citation.endPage | 569 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | OSTEOGENESIS IMPERFECTA | - |
dc.subject.keywordPlus | MUTATION | - |
dc.subject.keywordPlus | AMPLIFICATION | - |
dc.subject.keywordPlus | DISORDERS | - |
dc.subject.keywordPlus | ACCURATE | - |
dc.subject.keywordPlus | GENOME | - |
dc.subject.keywordPlus | WNT1 | - |
dc.subject.keywordAuthor | Mendelian | - |
dc.subject.keywordAuthor | molecular genetic test | - |
dc.subject.keywordAuthor | monogenic | - |
dc.subject.keywordAuthor | next-generation sequencing | - |
dc.subject.keywordAuthor | skeletal dysplasia | - |
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