Exome sequencing: A transient technology for molecular diagnostics?

KuC.-S.; CooperD.N.

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Exome sequencing: A transient technology for molecular diagnostics?

机译：外显子组测序：一种用于分子诊断的瞬时技术？

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Over the last couple of years, whole-exome sequencing (WES) has emerged as a powerful research tool with which to identify novel germline mutations underlying a variety of Mendelian disorders with hitherto unknown etiologies [1-3]. WES is a sequencing strategy that focuses on the protein coding regions of the human genome and is performed by high-throughput sequencing after exome enrichment steps. The introduction of multiple commercial exome enrichment kits, coupled with next-generation sequencing (NGS) technologies, has made this approach technically feasible, albeit with some limitations [4].

机译：在过去的几年中，全外显子测序（WES）已成为一种功能强大的研究工具，可用来鉴定具有迄今未知病因的各种孟德尔疾病的新种系突变[1-3]。 WES是一种测序策略，专注于人类基因组的蛋白质编码区域，在外显子组富集步骤之后通过高通量测序进行。引入多种商业外显子组富集试剂盒以及下一代测序（NGS）技术，使该方法在技术上可行，尽管存在一些局限性[4]。

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《Expert Review of Molecular Diagnostics》 |2012年第3期|共4页
作者
KuC.-S.; CooperD.N.;
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正文语种 eng
中图分类诊断学;
关键词
diagnostics; exome sequencing; Mendelian disorders; next-generation sequencing; personalized genomic medicine;

机译：诊断;外显子组测序;孟德尔疾病;下一代测序;个性化基因组医学;

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专利

1. Exome sequencing: A transient technology for molecular diagnostics? [J] . KuC.-S., CooperD.N. Expert Review of Molecular Diagnostics . 2012,第3期

机译：外显子组测序：一种用于分子诊断的瞬时技术？
2. Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa [J] . Fozia Fozia, Rubina Nazli, Nousheen Bibi, Frontiers in Pediatrics . 2021,第a期

机译：整体exome测序证实了三个Pakhtun家族的分子诊断常染色体隐性表皮细胞Bullosa
3. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies [J] . Journal of Medical Genetics . 2020,第4期

机译：全外膜测序和功能研究优化了益鲨尼贫血的分子遗传诊断
4. A First Foray into the Development and Implementation of Exome Sequencing in a Clinical Diagnostic Setting [C] . Hannah Kennedy, Kit Doudney, Peter George Molecular Medicine TRI-CON. . 2014

机译：临床诊断环境中EXMES测序的开发和实施第一部分。
5. The Utility of Whole Exome Sequencing in Patients with Intellectual Disability and Developmental Delay as a First-Tier Diagnostic Testing Strategy [D] . ?Richardson, Ellen 2020

机译：全基因组测序的患者效用智障和发展迟缓的一线诊断测试策略
6. Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa [O] . Fozia Fozia, Rubina Nazli, Nousheen Bibi, 2021

机译：全外壳测序证实了三个Pakhtun家族的分子诊断常染色体隐性表皮细胞Bullosa
7. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases [O] . Elias L. Salfati, Emily G. Spencer, Sarah E. Topol, 2019

机译：重新分析全外膜测序数据，揭示了新型诊断变体，提高了猝死和特发性疾病的分子诊断产率

Exome sequencing: A transient technology for molecular diagnostics?

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