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Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel

机译:针对主要遗传性肾脏疾病的综合基因检测方法,使用带有定制panel的下一代测序

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摘要

Background Gene identification of hereditary kidney diseases by DNA sequencing is important for precise diagnosis, treatment, and genetic consultations. However, the conventional Sanger sequencing is now practically powerless in the face of ever increasing numbers of reported causative genes of various hereditary diseases. The advent of next-generation sequencing technology has enabled large-scale, genome-wide, simultaneous sequence analyses of multiple candidate genes.
机译:背景 通过 DNA 测序对遗传性肾脏疾病进行基因鉴定对于精确诊断、治疗和遗传咨询非常重要。然而,面对越来越多的各种遗传性疾病的致病基因的报道,传统的桑格测序现在几乎无能为力。下一代测序技术的出现使得对多个候选基因进行大规模、全基因组、同步的序列分析成为可能。

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