Sentence examples for impact of the variant from inspiring English sources

The impact of the variant is calculated as the reported difference between the two scores.

The impact of the variant call pipeline was quite different between SNPs and small indels, as well as within and outside of "het blocks".

Our experimental data on protein interaction show a reduced ability to interact with PDE4A5 supporting the possible functional impact of the variant.

We analyzed the impact of the variant rare allele of βThr656Ile/ γPron74Ser on leptin signalling in vitro via the STAT3 pathway.

However, laboratories should evaluate the impact of the variant on all clinically relevant transcripts including alternate transcripts that contain additional exons or extended untranslated regions when there are known variants in these regions that are clinically interpretable.

Additionally, in a study of cis-regulation in colon cancer, the impact of some SNPs on expression was seen amongst colon cancer samples, but not observed in normal colon from the same patients, implying that the impact of the variant is dependent on disease-specific environmental factors [ 80].

In the absence of normality of transcript levels (evaluated by Shapiro-Wilk's test), the last two tests were taken into account for the evaluation of the functional impact of the variants.

We then assess the functional impact of the variants by analyzing the mRNA levels of 129 HapMap individuals using next generation sequencing data from Pickrell et al [7] and Montgomery et al [6].

To further investigate the impact of the variants on type 2 diabetes risk, we performed combined analyses with data from DIAGRAM+ Consortium in relation to type 2 diabetes (8,130 cases and 38,987 control subjects) [9].

Therefore the impact of the variants in these prolactin genes is unclear.

Potential functional impact of the variants in Swiss-Prot dataset was determined based on literature reports on probable disease associations.