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Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards "Exome Sequencing First Approach"?

作者信息

Gupta Neerja, Kabra Madhulika

机构信息

Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.

出版信息

Indian J Pediatr. 2024 Jul;91(7):653-654. doi: 10.1007/s12098-024-05173-3. Epub 2024 May 30.

DOI:10.1007/s12098-024-05173-3
PMID:38814510
Abstract
摘要

相似文献

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Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards "Exome Sequencing First Approach"?不明原因的智力残疾：诊断流程正迈向“先进行外显子组测序的方法”？
Indian J Pediatr. 2024 Jul;91(7):653-654. doi: 10.1007/s12098-024-05173-3. Epub 2024 May 30.
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本文引用的文献

1
Next-Generation Sequencing in Unexplained Intellectual Disability.不明原因智力障碍中的下一代测序技术
Indian J Pediatr. 2024 Jul;91(7):682-695. doi: 10.1007/s12098-023-04820-5. Epub 2023 Oct 7.
2
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.通过全外显子组测序（WES）数据分析进行胚系 CNV 检测可提高罕见遗传病的分辨率。
Genes (Basel). 2023 Jul 21;14(7):1490. doi: 10.3390/genes14071490.
3
Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.
不明原因的全面发育迟缓及智力障碍儿童的全基因组测序方式——一篇叙述性综述
Children (Basel). 2023 Mar 3;10(3):501. doi: 10.3390/children10030501.
4
Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.光学基因组图谱技术在人类遗传诊断常规应用中的优势与局限性
Genes (Basel). 2021 Dec 8;12(12):1958. doi: 10.3390/genes12121958.
5
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).外显子组和基因组测序用于患有先天畸形或智力障碍的儿科患者：美国医学遗传学与基因组学学会（ACMG）的循证临床指南。
Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.
6
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.全基因组 DNA 甲基化分析在孟德尔神经发育障碍中的诊断效用。
Int J Mol Sci. 2020 Dec 6;21(23):9303. doi: 10.3390/ijms21239303.
7
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.全外显子组和全基因组测序方法是否具有成本效益？文献系统评价。
Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.