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Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening.

Minghao DangHanli XuJingbo ZhangWeiwei WangLing BaiNan FangLin LiangJunrong ZhangFeiran LiuQixi WuShaowei WangYongtao Guan
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Knowing FF improves efficacy of NIPS. It brings a powerful Bayesian method, allows "no call" for samples with small FFs, renders screening for XXY syndrome simpler, and permits an adaptive design to sequence at a higher depth for samples with small FFs.
Keyphrases
  • pregnant women
  • single molecule
  • case report