Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing

Yu D, Zhang K, Han M, et al. Mol Genet Genomic Med. 2019;7(6):e674. doi:10.1002/mgg3.674. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2019, China, RAAs, CNVs

  • This publication reports on the development and evaluation of a low-pass whole genome sequencing assay for the detection of fetal CNVs and chromosomal aneuploidies in 20,003 pregnant women.