Digital Karyotyping with Whole Genomic Sequencing for Complex Congenital Disorder

• 作 者: Rongrong Chen Shuzhan Li Gongshu Liu Yuan Yuan Jiucheng Liu Tao Liu Renhua Wu Qian Sun Xiubao Ren Xin Yi Hongbing Zhang
• 机 构: Department of Immunology,Key Laboratory of Cancer Immunology and Biotherapy,National Clinical Resear
• 出 处: Journal of Genetics and Genomics
• 发表日期: 2015年11期
• 关键词: congenital Sequencing alterations sequencing maximize unprecedented deletion Gen

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

Complex congenital disorders may be caused by multiple genetic alterations and / or environmental hazards. Diagnostic and management of these diseases are usually difficult. Robust next-generation sequencing (NGS) technologies provide unprecedented opportunities to maximize mutation detection and