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The two most consistently identified susceptibility genes for sporadic PD are the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes [ 10, 11] which play independent, but not joint, effects on the risk of developing PD [ 12, 13], although there are significant differences in the variants associated with PD between Asian and Caucasian populations [ 14].
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In addition, no differences in the variant NOD2/CARD15 alleles were found between with any clinico-pathological characteristics.
These inconsistent calls might be attributable to differences in the variant detection algorithm [ 4] as we used UnifiedGenotyper from GATK [ 22] whereas the 1000 bull genomes project used mpileup from SAMtools [ 46].
Such different findings to our results could be due to the difference in the variants of MCF-7 cells used.
Different variant callers follow different underlying models, resulting in differences in the called variants [ 15].
Allelic heterogeneity can result in 1) contributions of different variants within the same gene and 2) differences in the predominant variants in a gene that influence the phenotype in different samples.
Generally speaking, there was not much difference in the variant categories employed by different speaker groups (Fig. 3).
The polymorphic patterns identified among the 10 sires, which clustered into three major groups, suggest that there are differences in the gene variants held by the different sires.
The only difference in the variant test was that the computer screen displayed one octave of a keyboard (12 keys, without labels) instead of the note names arranged in a circle, and the subject had to click on the key corresponding to the perceived musical note (Figure 3).
Markedly, the average difference in the variant to reference ratio at each variant position for these two datasets is only half a percentage (0.544%, SD 0.11%) leading us to conclude that genotype calling from our platform is highly congruent with the genotypes called from the exome sequencing dataset if similar algorithms were used in genotype calling.
63 Significantly, we further showed that there are sex differences in the ANKH variants associated with AS. 64 Intriguingly, there is heterogeneity even in multiplex AS families.
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