Editorial: Improving medical diagnosis in rare diseases.
作者信息
Linhares Natália Duarte, Gorman Kathleen M, Brusco Alfredo
机构信息
Genuity Science, Dublin, Ireland.
Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple St., Dublin, Ireland.
出版信息
Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022.
Abstract
摘要
相似文献
1
Editorial: Improving medical diagnosis in rare diseases.社论：改善罕见病的医学诊断
Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022.
2
Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.存档的新生儿干血斑样本可用于准确的全基因组和外显子靶向下一代测序。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):65-72. doi: 10.1016/j.ymgme.2013.06.004. Epub 2013 Jun 13.
3
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.在检测外显子变异方面，全基因组测序比全外显子测序更强大。
Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112. Epub 2015 Mar 31.
4
Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma.通过食管腺癌的全外显子组测序和全基因组测序检测到的拷贝数改变。
Hum Genomics. 2015 Sep 15;9(1):22. doi: 10.1186/s40246-015-0044-0.
5
Next-generation diagnostics: gene panel, exome, or whole genome?下一代诊断技术：基因组合、外显子组还是全基因组？
Hum Mutat. 2015 Jun;36(6):648-55. doi: 10.1002/humu.22783. Epub 2015 Apr 17.
6
[Application of modern approaches in the screening and early diagnosis programs for the orphan diseases].[现代方法在罕见病筛查和早期诊断项目中的应用]
Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(6):30-39. doi: 10.17116/jnevro202212206130.
7
Application of next-generation sequencing technologies in Neurology.下一代测序技术在神经病学中的应用。
Ann Transl Med. 2014 Dec;2(12):125. doi: 10.3978/j.issn.2305-5839.2014.11.11.
8
Editorial: Advanced Interpretable Machine Learning Methods for Clinical NGS Big Data of Complex Hereditary Diseases.社论：用于复杂遗传性疾病临床二代测序大数据的先进可解释机器学习方法
Front Genet. 2020 Oct 23;11:600902. doi: 10.3389/fgene.2020.600902. eCollection 2020.
9
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.用于完整捕获蛋白质编码区域的外显子组测序技术与基因组测序技术的比较
Hum Mutat. 2015 Aug;36(8):815-22. doi: 10.1002/humu.22813. Epub 2015 Jun 11.
10
Opportunities and challenges of whole-genome and -exome sequencing.全基因组和外显子组测序的机遇与挑战
BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5.
引用本文的文献
1
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand.解锁药物可及性：泰国罕见病药物可及性的综合分析
Orphanet J Rare Dis. 2025 May 28;20(1):258. doi: 10.1186/s13023-025-03754-9.
本文引用的文献
1
Best practices for the interpretation and reporting of clinical whole genome sequencing.临床全基因组测序解读与报告的最佳实践
NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z.
2
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.欧盟的罕见病护理路径：从漫长旅程和迷宫走向高速公路。
J Community Genet. 2021 Apr;12(2):231-239. doi: 10.1007/s12687-021-00520-9. Epub 2021 Mar 18.
3
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.估算罕见病的累计点患病率：对孤儿药数据库的分析。
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.
4
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.基因组和外显子组测序以及染色体微阵列在疑似遗传疾病儿童中的诊断及临床应用的荟萃分析。
NPJ Genom Med. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8. eCollection 2018.
5
Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions.弥合罕见病健康与社会关怀之间的差距：关键问题与创新解决方案。
Adv Exp Med Biol. 2017;1031:605-627. doi: 10.1007/978-3-319-67144-4_32.
6
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.OMIM.org：《人类孟德尔遗传在线》（OMIM®），一个人类基因和遗传疾病的在线目录。
Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26.
Zotero 插件