拟表型、表型扩展及巧合性诊断：是时候摒弃靶向基因检测板了吗？ - Suppr

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

作者信息

Ahram Dina F, Aggarwal Vimla S, Sanna-Cherchi Simone

机构信息

Division of Nephrology, Columbia University, New York, NY; Department of Pathology & Cell Biology, Columbia University, New York, NY.

Department of Pathology & Cell Biology, Columbia University, New York, NY.

出版信息

Am J Kidney Dis. 2020 Oct;76(4):451-453. doi: 10.1053/j.ajkd.2020.07.003. Epub 2020 Aug 15.

DOI:10.1053/j.ajkd.2020.07.003

PMID:32807573

Abstract

摘要

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Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?拟表型、表型扩展及巧合性诊断：是时候摒弃靶向基因检测板了吗？

Am J Kidney Dis. 2020 Oct;76(4):451-453. doi: 10.1053/j.ajkd.2020.07.003. Epub 2020 Aug 15.

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.外显子组测序涵盖了在靶向新一代测序面板上鉴定出的超过98%的突变。

PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017.

[Targeted gene sequencing panels: applicability for neoantigen profiling of colon and rectal adenocarcinoma].[靶向基因测序面板：在结肠直肠癌新抗原分析中的适用性]

Biomed Khim. 2018 Nov;64(6):517-524. doi: 10.18097/PBMC20186406517.

Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.用于鉴定临床诊断为长QT综合征的哥伦比亚患者基因变异的半导体全外显子组测序

Mol Diagn Ther. 2016 Aug;20(4):353-62. doi: 10.1007/s40291-016-0207-2.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.外显子组测序：捕获并测序所有人类编码区域以发现疾病基因。

Methods Mol Biol. 2012;884:335-51. doi: 10.1007/978-1-61779-848-1_24.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.外显子组测序与英国肢带型肌营养不良症专科服务中的连续基因检测比较。

Orphanet J Rare Dis. 2017 Sep 6;12(1):151. doi: 10.1186/s13023-017-0699-9.

Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.全外显子组测序在多个家庭成员中发现了与严重扩张型心肌病（DCM）相关的BCL2相关抗凋亡基因3（BAG3）基因中的1个碱基对新缺失，这些患者因该病需要进行心脏移植。

Am J Med Genet A. 2017 Mar;173(3):699-705. doi: 10.1002/ajmg.a.38087.

Translating exome sequencing from research to clinical diagnostics.外显子组测序从研究到临床诊断的转化。

Clin Chem Lab Med. 2011 Dec 23;50(7):1161-8. doi: 10.1515/cclm-2011-0841.

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.我们从下一代测序中学到了什么：对神经退行性疾病的基因诊断和发病机制理解的贡献。

J Neurogenet. 2015;29(2-3):103-12. doi: 10.3109/01677063.2015.1060972. Epub 2015 Jul 9.

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.对于孟德尔疾病，综合基因检测 panel 比临床外显子组测序具有优势。

Genome Biol. 2015 Jun 26;16(1):134. doi: 10.1186/s13059-015-0693-2.

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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).临床外显子组测序的疗效及涉及非孤立性肾和尿路先天性异常（CAKUT+）的表型扩展

Eur J Hum Genet. 2025 Sep 6. doi: 10.1038/s41431-025-01929-3.

Diagnostic delay in monogenic disease: A scoping review.单基因疾病的诊断延迟：范围综述。

Genet Med. 2024 Apr;26(4):101074. doi: 10.1016/j.gim.2024.101074. Epub 2024 Jan 17.

Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.超越肾活检：未明肾脏疾病的基因组学方法

Clin Kidney J. 2023 Apr 25;17(1):sfad099. doi: 10.1093/ckj/sfad099. eCollection 2024 Jan.

Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.通过活检-基因分析诊断病因不明的肾脏疾病

Kidney Int Rep. 2023 Jul 22;8(10):2077-2087. doi: 10.1016/j.ekir.2023.07.003. eCollection 2023 Oct.

Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.长相相似，声音相似：类固醇耐药性肾病综合征中的表型模拟。

Int J Environ Res Public Health. 2020 Nov 12;17(22):8363. doi: 10.3390/ijerph17228363.

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Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

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