Next-generation sequencing identifies pathogenic mutations underlying Mendelian disorders

• 作 者: Xue Zhang
• 机 构: DepartmentofMedicalGeneticsInstituteofBasicMedicalSciencesChineseAcademyofMedicalSciences&PekingUnio
• 出 处: 第四届吴宪吴瑞国际学术研讨会、第九届全国医学生物化学与分子生物学、第六届全国临床应用生物化学与分子生物学联合学术讨论会
• 发表日期: 2015年8期

　　The application of next-generation sequencing (NGS) has rapidly accelerated the pace of discovery of the causative genes underlying Mendelian disorders and revolutionized the translating of disease gene discovery into the clinic.About 600 genes associated with Mendelian disorders have been discovered via NGS approach since the first success in 2010.In China, genetic testing using whole genome, whole exome and targeted NGS has been provided in many academic medical centers and independent diagnostic laboratories.