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”？ - Suppr

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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

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本文引用的文献

Next-Generation Sequencing in Unexplained Intellectual Disability.

Indian J Pediatr. 2024 Jul;91(7):682-695. doi: 10.1007/s12098-023-04820-5. Epub 2023 Oct 7.

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

Genes (Basel). 2023 Jul 21;14(7):1490. doi: 10.3390/genes14071490.

Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.

Children (Basel). 2023 Mar 3;10(3):501. doi: 10.3390/children10030501.

Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.

Genes (Basel). 2021 Dec 8;12(12):1958. doi: 10.3390/genes12121958.

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).

Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.

Int J Mol Sci. 2020 Dec 6;21(23):9303. doi: 10.3390/ijms21239303.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15.

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