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A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders.

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Using sickle cell disease as a model, Cutts et al describe a highly sensitive method for prenatal diagnosis of known single-gene defects using next-generation sequencing of maternal plasma cell-free DNA. Click to show full abstract

Using sickle cell disease as a model, Cutts et al describe a highly sensitive method for prenatal diagnosis of known single-gene defects using next-generation sequencing of maternal plasma cell-free DNA.

Keywords: method non; invasive prenatal; diagnosis; prenatal diagnosis; non invasive; diagnosis monogenic

Journal Title: Blood
Year Published: 2019

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