CLINICAL EFFICIENCY OF SIMULTANEOUS CNV-SEQ AND WHOLE-EXOME SEQUENCING FOR TESTING FETAL STRUCTURAL ANOMALIES

Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies

Abstract Background Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004.Many methods have been utilized for examining the congenital anomalies in fetuses.This traction pad study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosi

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