Expanded chromosomal microarray comprising screening for spinal muscular atrophy and monogenic diseases
Xiaorui Luan, Naixin Xu, Yaojun Xie, Weihui Shi, Xianling Cao, X W Zhou, Songchang Chen, Chenming Xu
This paper evaluates an expanded chromosomal microarray for prenatal diagnosis, showing higher detection rates for copy number variations and exonic deletions compared to karyotype analysis and low-depth genome sequencing.
medRxiv · Nov 19, 2024 · PreprintGenetic & Genomic Medicine