지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 652 - 661 (10page)
이용수
초록· 키워드
오류제보하기
Purpose: We developed a new workflow design which included results from both biochemical and targeted gene sequencinganalysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newbornscreening (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 inGroup 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 classifiedas pathogenic and likely pathogenic, respectively. In Group 2, 11 and 6 of 17 alleles with identified causative variants werepathogenic and likely pathogenic, respectively. There were no variants of uncertain significance. For each individual, the NewbornDiscoveryand biochemical analysis results reached 100% concordance, since the single newborn testing negative for causativegenetic 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 ofspecific IMD, but also detected conditions not included in the current NBS.
목차
등록된 정보가 없습니다.
참고문헌 (31)
참고문헌 신청
박경진 / 2015 / 차세대 신생아 선별검사에 대한 전망 / Laboratory Medicine Online 5(4):169~175
Mak CM / 2013 / Inborn errors of metabolism and expanded newborn screening: review and update / Crit Rev Clin Lab Sci 50:142~162
Schulze A / 2003 / Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications / Pediatrics 111(6):1399~1406
Bhattacharjee A / 2015 / Development of DNA confirmatory and highrisk diagnostic testing for newborns using targeted next-generation DNA sequencing / Genet Med 17:337~347
Bodian DL / 2016 / Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates / Genet Med 18:221~230
Mak CM / 2013 / Inborn errors of metabolism and expanded newborn screening: review and update / Crit Rev Clin Lab Sci 50:142~162
Schulze A / 2003 / Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications / Pediatrics 111(6):1399~1406
Bhattacharjee A / 2015 / Development of DNA confirmatory and highrisk diagnostic testing for newborns using targeted next-generation DNA sequencing / Genet Med 17:337~347
Bodian DL / 2016 / Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates / Genet Med 18:221~230
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
Annals of Laboratory Medicine
2016 .01
-
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses
Annals of Laboratory Medicine
2019 .01
-
한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포
Laboratory Medicine Online
2021 .01
-
Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
Annals of Laboratory Medicine
2019 .01
-
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome
Annals of Laboratory Medicine
2018 .01
-
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides
Yonsei Medical Journal
2018 .01
-
Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A
Annals of Laboratory Medicine
2018 .01
-
Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)
Journal of Laboratory Medicine And Quality Assurance
2021 .01
-
Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022
JOURNAL OF BACTERIOLOGY AND VIROLOGY
2022 .12
-
Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics
Childhood Kidney Diseases
2024 .02
-
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines
Annals of Laboratory Medicine
2024 .05
-
Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians
Allergy, Asthma & Immunology Research
2022 .09
-
SARS-CoV-2 Variants of Concern
Yonsei Medical Journal
2021 .11
-
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene
Journal of Clinical Neurology
2017 .01
-
Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma
Annals of Laboratory Medicine
2021 .01
-
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism
Annals of Laboratory Medicine
2024 .07
-
Clinical Strategies in Gene Screening Counseling for the Healthy General Population
Korean Journal of Family Medicine
2024 .03
-
Germline pathogenic variants in unselected Korean men with prostate cancer
Investigative and Clinical Urology
2022 .05
-
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
Endocrinology and Metabolism
2018 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0