{"title":"下一代测序在人类遗传疾病分子诊断中的临床应用","authors":"L. Wong","doi":"10.6501/CJM.1304.001","DOIUrl":null,"url":null,"abstract":"The next generation massively parallel sequencing has now been widely applied to clinical molecular diagnoses of human genetic disorders. This article reviews the evolution of next generation sequencing (NGS), the target sequence enrichment methods, principles and chemistry of various platforms, panel design, clinical validation, examples of clinically available panels, challenges and diagnostic yields. This review article describes how NGS can be applied to clinical diagnosis, advantages and challenges of the methodologies.","PeriodicalId":404480,"journal":{"name":"The Changhua Journal of Medicine","volume":"64 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders\",\"authors\":\"L. Wong\",\"doi\":\"10.6501/CJM.1304.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The next generation massively parallel sequencing has now been widely applied to clinical molecular diagnoses of human genetic disorders. This article reviews the evolution of next generation sequencing (NGS), the target sequence enrichment methods, principles and chemistry of various platforms, panel design, clinical validation, examples of clinically available panels, challenges and diagnostic yields. This review article describes how NGS can be applied to clinical diagnosis, advantages and challenges of the methodologies.\",\"PeriodicalId\":404480,\"journal\":{\"name\":\"The Changhua Journal of Medicine\",\"volume\":\"64 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Changhua Journal of Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.6501/CJM.1304.001\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Changhua Journal of Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.6501/CJM.1304.001","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
The next generation massively parallel sequencing has now been widely applied to clinical molecular diagnoses of human genetic disorders. This article reviews the evolution of next generation sequencing (NGS), the target sequence enrichment methods, principles and chemistry of various platforms, panel design, clinical validation, examples of clinically available panels, challenges and diagnostic yields. This review article describes how NGS can be applied to clinical diagnosis, advantages and challenges of the methodologies.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
