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http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82432完整後設資料紀錄
| DC 欄位 | 值 | 語言 |
|---|---|---|
| dc.contributor.advisor | 楊偉勛(Wei-Shiung Yang) | |
| dc.contributor.author | Jen-Feng Liu | en |
| dc.contributor.author | 劉人鳳 | zh_TW |
| dc.date.accessioned | 2022-11-25T07:30:56Z | - |
| dc.date.available | 2024-01-29 | |
| dc.date.copyright | 2022-02-17 | |
| dc.date.issued | 2022 | |
| dc.date.submitted | 2022-02-09 | |
| dc.identifier.citation | 1. Gross, S. J., Pletcher, B. A., Monaghan, K. G. Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet. Med. 10, 54–56 (2008). 2. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet. Gynecol. 129, e41–e55 (2017). 3. Prior, T. W. Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet. Med. 10, 840–842 (2008). 4. Grody, W. W. et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genetics in Medicine vol. 3 149–154 (2001). 5. Westemeyer, M. et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet. Med. 22, 1320–1328 (2020). 6. Kraft, S. A., Duenas, D., Wilfond, B. S. Goddard, K. A. B. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet. Med. 21, 790–797 (2019). 7. College of Obstetricians and, A. ACOG (American College of Obstetricians and Gynecologists) educational bulletin. Adult manifestation of childhood sexual abuse, number 259, July 2000. Clinical …. Int. J. Gynaecol. Obstet. (2001). 8. Grody, W. W. et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet. Med. 15, 482–483 (2013). 9. Ben-Shachar, R., Svenson, A., Goldberg, J. D. Muzzey, D. A data-driven evaluation of the size and content of expanded carrier screening panels. Genetics in Medicine vol. 21 1931–1939 (2019). 10. Chokoshvili, D., Vears, D. Borry, P. Expanded carrier screening for monogenic disorders: where are we now? Prenat. Diagn. 38, 59–66 (2018). 11. Wei, C.-Y. et al. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med 6, 10 (2021). 12. Freed, D., Aldana, R., Weber, J. A. Edwards, J. S. The Sentieon Genomics Tools-A fast and accurate solution to variant calling from next-generation sequence data. BioRxiv (2017). 13. Van der Auwera, G. A. et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics 43, 11.10.1–11.10.33 (2013). 14. Li, H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv [q-bio.GN] (2013). 15. Danecek, P. et al. Twelve years of SAMtools and BCFtools. Gigascience 10, (2021). 16. Li, H. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27, 2987–2993 (2011). 17. Wang, K., Li, M. Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010). 18. Chen, X. et al. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 32, 1220–1222 (2016). 19. Geoffroy, V. et al. AnnotSV: an integrated tool for structural variations annotation. Bioinformatics 34, 3572–3574 (2018). 20. Chen, X. et al. Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet. Med. 22, 945–953 (2020). 21. Liu, K.-M. et al. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch. Neurol. 65, 387–392 (2008). 22. Chien, Y.-H. et al. Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. J. Inherit. Metab. Dis. 24, 815–823 (2001). 23. Noone, P. G. et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am. J. Respir. Crit. Care Med. 162, 1919–1924 (2000). 24. Elsas, L. J., 2nd, Langley, S., Paulk, E. M., Hjelm, L. N. Dembure, P. P. A molecular approach to galactosemia. Eur. J. Pediatr. 154, S21–7 (1995). 25. El-Seedy, A. et al. Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations. J. Cyst. Fibros. 12, 407–410 (2013). 26. Miller, D. T. et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 23, 1381–1390 (2021). 27. Cottin, V. et al. Late CF caused by homozygous IVS8-5T CFTR polymorphism. Thorax 60, 974–975 (2005). 28. Wu, C.-C. et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum. Reprod. 20, 2470–2475 (2005). | |
| dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/82432 | - |
| dc.description.abstract | 本論文的目的是將次世代定序方法應用於台灣族群的廣泛性帶因者篩檢。傳統的產前和孕前帶因者篩檢只針對特定族群中，盛行率高的特定疾病。這種方式基於種族背景和特定疾病的帶因者篩檢，在現代世界，因為族群融合迅速，往往不夠全面。其次，傳統方式需要多種評估方法來配合，才能處理多種狀況，這增加了孕前帶因者篩檢的複雜性，嚴重限制了篩檢覆蓋範圍。 使用次世代定序，上述的局限性得到大幅度的改善。它可以擴大所涵蓋的疾病基因數量並將檢測應用於跨族群的範圍。在這項研究中，我們建立一個涵蓋270基因的虛擬套組，應用臺灣生物資料庫裏的1496個全基因定序樣本予以分析各個單基因遺傳疾病的帶因率。我們發現，在台灣族群，23對父母中有1對可以得利於此項檢查，避免新生兒單基因遺傳疾病的風險。我們建議，利用次世代定序施行廣泛性帶因者篩檢，與傳統方式和陣列基因分型相比，可以提供更準確全面的資訊。瞭解個人單基因遺傳疾病帶因者者狀態不僅在生殖策略中很重要，而且在健康管理中也很重要。 | zh_TW |
| dc.description.provenance | Made available in DSpace on 2022-11-25T07:30:56Z (GMT). No. of bitstreams: 1 U0001-2901202221041300.pdf: 2869565 bytes, checksum: b6c0cf5288517aac31f751c355e1c122 (MD5) Previous issue date: 2022 | en |
| dc.description.tableofcontents | 口試委員審定書................................................................... i 誌謝 ........................................................................... ii 摘要 ........................................................................... iii Abstract.........................................................................iv Contents …...................................................................... v List of tables ................................................................ vi List of figures ............................................................. vii Introduction ................................................................. 1 Material and methods ......................................................... 3 Results ...................................................................... 5 Discussion ................................................................... 8 Conclusion ................................................................... 10 Figures ...................................................................... 11 Tables ....................................................................... 12 References ................................................................... 19 | |
| dc.language.iso | en | |
| dc.title | 台灣單基因隱性遺傳疾病帶因者擴大篩檢分析 | zh_TW |
| dc.title | Expanded carrier screening status in Taiwan | en |
| dc.date.schoolyear | 110-1 | |
| dc.description.degree | 碩士 | |
| dc.contributor.coadvisor | 陳沛隆(Pei-Lung Chen) | |
| dc.contributor.oralexamcommittee | 陳倩瑜(Yann-Jou Lin),許書睿(Chun-Yen Chang),(Chia-Kuen Cheng),(Wan-Yu Chou) | |
| dc.subject.keyword | 帶因者篩檢,單基因遺傳疾病,致病變異點,帶因者頻率,廣泛性跨族群篩檢, | zh_TW |
| dc.subject.keyword | carrier screening,single-gene disorders,pathogenic variants,carrier frequencies,pan-ethnic screening, | en |
| dc.relation.page | 21 | |
| dc.identifier.doi | 10.6342/NTU202200259 | |
| dc.rights.note | 同意授權(全球公開) | |
| dc.date.accepted | 2022-02-09 | |
| dc.contributor.author-college | 醫學院 | zh_TW |
| dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
| dc.date.embargo-lift | 2024-01-29 | - |
| 顯示於系所單位： | 分子醫學研究所 | |
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