Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.

Zirui DongJun ZhangPing HuHaixiao ChenJinjin XuQi TianLu MengYanchou YeJun WangMeiyan ZhangYun LiHuilin WangShanshan YuFang ChenJiansheng XieHui JiangWei WangKwong Wai ChoyZhengfeng Xu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940-948.

Keyphrases

genome wide
high resolution
copy number
dna methylation
pregnant women
preterm infants
gene expression
tandem mass spectrometry