Genomics
Evaluation of CNV detection tools for prenatal diagnosis using amniotic fluid clinical whole-exome sequencing data.
Qi Guo, Yue Zhang, Xin Gui, Lijuan Zhong, Rong Zhong, Yan Jiang, Hongbo Qi
Published: 202610.1016/j.ygeno.2026.111196
Abstract
BACKGROUND: Copy number variations (CNVs) are significant contributors to genetic disorders, making their accurate detection crucial for prenatal diagnosis. While clinical whole exome sequencing (cWES) is increasingly used to identify sequence varian…
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