Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
Yeqing QianYan SunXueqin GuoLijie SongYixi SunXiaoyang GaoBei LiuYuqing XuNa ChenMin ChenYuqin LuoZhihong QiaoLinlin FanJianfen ManKang ZhangXiaoli WangTingting RongZhonghua WangFengxia LiuJing ZhaoXiaoming WeiMinfeng ChenZhiyu PengHuanhuan PengJun SunMin-Yue DongPublished in: Journal of medical genetics (2023)
LP GS is a promising, robust alternative to CMA in clinical settings. A total of 25 M UAHRs are sufficient for detecting aneuploidies and most microdeletions/microduplications.