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Abstract: The widespread use of genetic testing in high risk pregnancies has createdstrong interest in rapid and accurate molecular diagnostics for commonchromosomal aneuploidies. We show here that digital polymerase chain reaction(dPCR) can be used for accurate measurement of trisomy 21 (Down-s Syndrome),the most common human aneuploidy. dPCR is generally applicable to anyaneuploidy, does not depend on allelic distribution or gender, and is able todetect signals in the presence of mosaics or contaminating maternal DNA.



Autor: H. Christina Fan, Stephen R. Quake

Fuente: https://arxiv.org/







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