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Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.

Michael H GuoAnthony R Gregg
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our work guides the design of carrier screening panels and provides data to assist in counseling prospective parents. Our results highlight a high cumulative carrier rate across genes, underscoring the need for careful selection of genes for screening.
Keyphrases
  • genome wide
  • pregnant women
  • bioinformatics analysis
  • human immunodeficiency virus
  • deep learning
  • artificial intelligence
  • genome wide analysis