Using Next Generation Sequencing for Diagnosis of Suspected Genetic Disorders
- Authors: Parith Wongkittichote1, Pisut Pongchaikul2, Duangrurdee Wattanasirichaigoon3
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View Affiliations Hide Affiliations1 Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand 2 Chakri Naruebodindra Medical Institute (CNMI), Faculty of Medicine Ramathibodi Hospital, Mahidol University, Samut Prakan 10540, Thailand 3 Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
- Source: Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine , pp 58-67
- Publication Date: December 2021
- Language: English
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The process of making a genetic diagnosis was considered time-consuming and labor-intensive. The completion of Human Genome Project and the development of next generation sequencing technology has been changing the face of genetic diagnosis with the high-throughput analysis in timely and costly manners. It also rapidly expands the knowledge in the medical genetics field. However, new challenges, including variant interpretation, secondary findings and ethical issues, have arisen. Here we discuss current platforms of NGS, basis of pathogenicity prediction, approaches of NGS and their performance as well as ethical concerns.
Hardbound ISBN:
9789815036763
Ebook ISBN:
9789815036756
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