Complex congenital disorders may be caused by multiple genetic alterations and/or environmental hazards. Diagnosis and management of these diseases are usually difficult. Robust next-generation sequencing （NGS） tech...Complex congenital disorders may be caused by multiple genetic alterations and/or environmental hazards. Diagnosis and management of these diseases are usually difficult. Robust next-generation sequencing （NGS） technologies provide unprecedented opportunities to maximize mutation detection and improve genetic counseling and clinical management. Targeted or whole exome sequencing （WES） mainly detects protein-coding DNA sequence aberrations and is the major DNA sequencing technology that is entering clinical practice （Liu et al., 2014）.展开更多
基金supported by the grants from the National High Technology Research and Development Program of China (863 Program) (No. 2012AA02A201)the Tianjin Natural Science Foundation (No. 13JCQNJC10400)
文摘Complex congenital disorders may be caused by multiple genetic alterations and/or environmental hazards. Diagnosis and management of these diseases are usually difficult. Robust next-generation sequencing （NGS） technologies provide unprecedented opportunities to maximize mutation detection and improve genetic counseling and clinical management. Targeted or whole exome sequencing （WES） mainly detects protein-coding DNA sequence aberrations and is the major DNA sequencing technology that is entering clinical practice （Liu et al., 2014）.
