Digital Karyotyping with Whole Genomic Sequencing for Complex Congenital Disorder.

Rongrong Chen,Shuzhan Li,Gongshu Liu, Yuan,Jiucheng Liu,Tao Liu,Renhua Wu,Qian Sun,Xiubao Ren,Xin Yi,Hongbing Zhang

Journal of genetics and genomics = Yi chuan xue bao（2015）

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摘要

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

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Genomic Instability

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