Sentence examples for dosage approaches from inspiring English sources

This fraction is required in non-invasive prenatal diagnosis for the calculation of the relative chromosome dosage for assessment of fetal aneuploidies [ 32] or relative mutation dosage approaches for single-gene disorders such as sickle cell anaemia [ 33], as well as tumour diagnostics for monitoring of cancer-associated copy number variations [ 10].

Thus, we developed an alternative approach, the epigenetic-genetic (EGG) chromosome dosage approach, with potentially wider population coverage.

Here we apply this epigenetic-genetic (EGG) chromosome dosage approach to detect Edwards syndrome (trisomy 18) in the fetus noninvasively.

In conclusion, we have shown that by using an informative SNP allele as the genetic reference baseline, the EGG chromosome dosage approach could be applied to the prenatal diagnosis of trisomy 21 for both male and female fetuses.

As a proof-of-concept study, we have demonstrated that the epigenetic-genetic chromosome dosage approach can be applied to the prenatal diagnosis of trisomy 21 for both male and female fetuses.

Detection of fetal trisomy 21 (T21) has been demonstrated by an epigenetic-genetic chromosome dosage approach where the amount of hypermethylated HLCS in maternal plasma is normalized using a fetal genetic marker on the Y chromosome as a chromosome dosage reference marker.

In this paper, we further demonstrated that the epigenetic-genetic chromosome dosage approach can be applied to the prenatal diagnosis of trisomy 21 using a fetal-specific SNP allele as a genetic reference baseline in place of a chromosome Y marker derived from a male fetus.

We have recently proposed a novel epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using a fetal epigenetic marker, the putative promoter of the holocarboxylase synthetase (HLCS) gene (NM_000411) on chromosome 21, and a fetal genetic marker, the zinc finger protein, Y-linked (ZFY) gene (NM_003411) present on chromosome Y [29].

We used the logistic regression expected haplotype dosage approach of [ 11], combining rare haplotypes.

The above analyses were repeated using a minimum effective dosage approach which only included participants who completed the minimum participation in the program (completing the recommended level of mobiletype entries: at least two entries per day for 14 days).

However, only one group has used this assay on maternal plasma samples for NIPD of trisomy 21 through the epigenetic-genetic chromosome-dosage approach [ 78, 79].