GeneticsClinical ChemistryPeer-reviewed
Nonivasive prenatal diagnosis of single-gene disorders using droplet digital PCR
Joan Camuñas-Soler, Ho-Jae Lee, Louanne Hudgins…·Stephen R. Quake
This paper develops a noninvasive prenatal diagnosis method using ddPCR to detect single-gene disorders from maternal plasma, successfully identifying affected pregnancies as early as week 11.
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