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In order to simplify dosage analysis we used the intervals previously described by other authors1.
This often happens when we want to estimate the impact of dosage analysis with treatment dosage (Bia and Mattei 2008).
The precision and accuracy of our SMN gene dosage analysis are high because our assay design and controls take advantage of the consistency of the PCR bias.
Under this definition, Hirano and Imbens (2004) refer to {Y i (t)} t ∈ Γ as the unit-level dose-response function, and a dosage analysis is interested in the average dose-response function, μ(t) = E{ Yi (t)}.
Subsequently, we performed gene dosage analysis in two samples as previously detailed.
PAP assays have previously been shown to multiplex with sufficient rigor for dosage analysis [35].
Examples of such approaches are those based on relative chromosome dosage analysis by digital PCR [13], and more recently, massively parallel genomic sequencing [25], [26].
We have recently demonstrated in principle that the EGG approach was a feasible method for fetal chromosome dosage analysis in maternal plasma DNA samples [29].
It is believed that an improved microfluidics digital PCR platform without dead volume would enhance the efficiency of the epigenetic-genetic chromosome dosage analysis.
Informative cases, defined as one in which the fetus was heterozygous and the mother was homozygous for the rs6636 SNP, were subjected to the epigenetic-genetic chromosome dosage analysis.
Chromosome dosage analysis was performed by comparing the amount of hypermethylated HLCS to that of a SNP allele (rs6636, a C/G SNP) that the fetus has inherited from the father but absent in the pregnant mother.
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