Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.

Qinxin ZhangYan WangYiyun XuRan ZhouMingtao HuangFengchang QiaoLulu MengAn LiuJing ZhouLi LiXiuqing JiZhengfeng XuPing Hu

Published in: Acta obstetricia et gynecologica Scandinavica (2023)

Our study highlights that optical genome mapping can provide comprehensive and accurate information on chromosomal aberrations in a single test, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis.

Keyphrases

high resolution
copy number
genome wide
high speed
mass spectrometry
high density
healthcare
dna methylation
health information
risk assessment
climate change