医学
外显子组测序
全基因组测序
外显子组
荟萃分析
微阵列分析技术
句号(音乐)
DNA测序
计算生物学
微阵列
基因组
遗传学
内科学
突变
生物
基因
基因表达
物理
声学
作者
Norman Shreeve,C. Sproule,Kwong Wai Choy,Zirui Dong,Katarzyna Gajewska‐Knapik,Mark D. Kilby,Fionnuala Mone
摘要
First, to determine the incremental yield of whole-genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF-PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ultrasound. Second, to evaluate the turnaround time (TAT) and quantity of DNA required for testing using these pathways.
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