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On this interpretation, each eQTL (or GWAS) effect is actually the summation of very mild contributions from multiple variants in the interval.
For each individual sample we genotype seven SNPs, which resolve all known KRT1 haplotypes, thereby allowing us to examine most variants in the interval for association by proxy.
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Our study demonstrates that genetic variants in the KRT1 interval contribute to quantifiable differences in the migration rates of keratinocytes isolated from different individuals.
Our results show that genetic variants in the KRT1 interval are associated with the rate of HEK migration after wounding in vitro.
We analyze genetic variants in the KRT1 interval and identify SNPs significantly associated with HEK migration rates in both samples sets.
Here we set out to determine whether genetic variants in the KRT1 interval are associated with migration rates of human epidermal keratinocytes (HEK) in response to wounding.
To test whether genetic variants in the KRT1 interval are associated with migration rates of HEK in response to wounding we initially focused on the first set of 24 samples.
We next examined the second set of 17 samples again analyzing each of the seven SNPs independently by linear regression analysis to determine if the association of genetic variants in the KRT1 interval with HEK migration rate would replicate.
To perform statistical tests to determine if the migration rate differences of the HEK cells are correlated with variants in the KRT1 interval, we genotyped both sets of samples using seven SNPs that resolve all the haplotype patterns previously observed in the 26-kb haplotype block (Table 1) [8].
We examined cultured primary HEK cells derived from the epidermal layer of normal neonatal foreskin to determine whether they could be used as a model system to test our hypothesis that genetic variants in the KRT1 interval are associated with variation in cell migration rates.
Exome sequencing was used to identify variants in the candidate interval (for detailed methods of the sample preparation, sequencing and analysis, see Supplementary material).
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