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Treading the Path with Caution: Interpreting the Whole Exome Sequencing Data for Mendelian Disorders.

作者信息

Chowdhury Madhumita Roy, Gupta Neerja

机构信息

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Pediatr. 2025 Aug 9. doi: 10.1007/s12098-025-05733-1.

DOI:10.1007/s12098-025-05733-1
PMID:40782237
Abstract
摘要

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本文引用的文献

1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.基于 4577 个分子特征明确的家系，鉴定因果变异时陷阱的诊断意义。
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
2
Clinical exome sequencing-Mistakes and caveats.临床外显子组测序——错误与注意事项。
Hum Mutat. 2022 Aug;43(8):1041-1055. doi: 10.1002/humu.24360. Epub 2022 Mar 15.
3
The clinical utility of exome and genome sequencing across clinical indications: a systematic review.外显子组和基因组测序在各种临床适应证中的临床应用价值：系统评价。
Hum Genet. 2021 Oct;140(10):1403-1416. doi: 10.1007/s00439-021-02331-x. Epub 2021 Aug 8.
4
Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.处理下一代测序时代分子诊断中的假基因。
Methods Mol Biol. 2021;2324:363-381. doi: 10.1007/978-1-0716-1503-4_22.
5
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.在分子诊断环境中处理高度同源基因：临床下一代测序的资源
Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26.