Cited 9 times in
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases
DC Field | Value | Language |
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dc.contributor.author | 이경아 | - |
dc.contributor.author | 이순민 | - |
dc.contributor.author | 채현욱 | - |
dc.date.accessioned | 2018-08-28T17:24:39Z | - |
dc.date.available | 2018-08-28T17:24:39Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/162572 | - |
dc.description.abstract | PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants. MATERIALS AND METHODS: Ten patients in Group 1 were diagnosed clinically using biochemical assays only, and 10 newborns in Group 2 were diagnosed with suspected inherited metabolic disease (IMD) in NBS. We applied NewbornDiscovery (SD Genomics), an integrated workflow design that encompasses analyte-phenotype-gene, single nucleotide variant/small insertion and deletion/copy number variation analyses along with clinical interpretation of genetic variants related to each participant's condition. RESULTS: A molecular genetic diagnosis was established in 95% (19/20) of individuals. In Group 1, 13 and 7 of 20 alleles were classified as pathogenic and likely pathogenic, respectively. In Group 2, 11 and 6 of 17 alleles with identified causative variants were pathogenic and likely pathogenic, respectively. There were no variants of uncertain significance. For each individual, the NewbornDiscovery and biochemical analysis results reached 100% concordance, since the single newborn testing negative for causative genetic variant in Group 2 showed a benign clinical course. CONCLUSION: This integrated diagnostic workflow resulted in a high yield. This approach not only enabled early confirmation of specific IMD, but also detected conditions not included in the current NBS. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Alleles | - |
dc.subject.MESH | *Computational Biology | - |
dc.subject.MESH | DNA Copy Number Variations | - |
dc.subject.MESH | Differential *Diagnosis | - |
dc.subject.MESH | Dried Blood Spot Testing | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Testing/*methods | - |
dc.subject.MESH | Genomics | - |
dc.subject.MESH | High-Throughput Nucleotide Sequencing | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Newborn Infant | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Metabolic Diseases/*diagnosis/genetics | - |
dc.subject.MESH | *Neonatal Screening | - |
dc.subject.MESH | Pilot Projects | - |
dc.subject.MESH | DNA Sequence Analysis | - |
dc.subject.MESH | Workflow | - |
dc.title | A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Laboratory Medicine | - |
dc.contributor.googleauthor | Jung Min Ko | - |
dc.contributor.googleauthor | Kyung Sun Park | - |
dc.contributor.googleauthor | Yeeok Kang | - |
dc.contributor.googleauthor | Seong Hyeuk Nam | - |
dc.contributor.googleauthor | Yoonjung Kim | - |
dc.contributor.googleauthor | Inho Park | - |
dc.contributor.googleauthor | Hyun Wook Chae | - |
dc.contributor.googleauthor | Soon Min Lee | - |
dc.contributor.googleauthor | Kyung A Lee | - |
dc.contributor.googleauthor | Jong Won Kim | - |
dc.identifier.doi | 10.3349/ymj.2018.59.5.652 | - |
dc.contributor.localId | A02647 | - |
dc.contributor.localId | A02905 | - |
dc.contributor.localId | A04026 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 29869463 | - |
dc.subject.keyword | Newborn screening | - |
dc.subject.keyword | dried blood spot | - |
dc.subject.keyword | inherited metabolic disease | - |
dc.subject.keyword | next-generation sequencing | - |
dc.subject.keyword | targeted gene panel sequencing | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.alternativeName | Lee, Soon Min | - |
dc.contributor.alternativeName | Chae, Hyun Wook | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Lee, Soon Min | - |
dc.contributor.affiliatedAuthor | Chae, Hyun Wook | - |
dc.citation.volume | 59 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 652 | - |
dc.citation.endPage | 661 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.59(5) : 652-661, 2018 | - |
dc.identifier.rimsid | 60152 | - |
dc.type.rims | ART | - |
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