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

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• 作者：Takayasu Mori ; Kazuyoshi Hosomichi ; Motoko Chiga…
• 关键词：Next ; generation sequencing ; Custom panel ; Inherited kidney diseases ; Comprehensive diagnosis ; SPEEDI ; KID
• 刊名：Clinical and Experimental Nephrology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：21
• 期：1
• 页码：63-75
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Nephrology; Urology;
• 出版者：Springer Japan
• ISSN：1437-7799
• 卷排序：21

文摘

BackgroundGene 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.