For example, take an individual who has one allele for blonde hair and one allele for brown hair. Based on this information, we know that their genotype includes blonde hair and brown hair. If we observe that the individual has blonde hair – in other words, blonde hair is the expressed ...
So, what it is the difference between a gene and an allele? The short answer is that an allele is a variant form of a gene. Explained in greater detail, each gene resides at a specific locus (location on a chromosome) in two copies, one copy of the gene inherited from each parent....
Understanding the difference in genetic regulation of gene expression between brain and blood is important for discovering genes for brain-related traits and disorders. Here, we estimate the correlation of genetic effects at the top-associatedcis-expression or -DNA methylation (DNAm) quantitative trait...
While we found a large overlap between our associations and those found in other studies15,16,23, the differences highlight the sensitivity of gene-based tests to qualifying criteria for rare variants (i.e., allele frequencies or variant impact predictions), which can make them harder to reprod...
S13). For our dataset, the most important filter to include is a mean Δβ difference cut-off, i.e., the size of the methylation difference. For this particular dataset, we find that a Δβ difference cut-off of 0.1 performs best across all comparisons. For the B cells vs NK cells...
The distributions of genotype and allele of 2123C/G differed significantly between the groups (P=0.007 and P=0.009,respectively),while no significant difference was found in 1817T/C (P=0.384 and P=0.169,respectively). sP-selectin level was associated with the 2123C/G polymorphism but not ...
The second class of approaches is that of site frequency spectra (SFS), which use histograms of allele frequencies to estimate the magnitude of fitness effects in pre-defined sites in comparison to a neutral class. In doing so, this approach distinguishes sites subject to selection, allowing ...
However, the majority of cis-eQTLs do exhibit allele specific expression. We applied a linear model controlling for ancestry, sex, genotyping platform and latent factors12 in the expression data for each tissue that may reflect batch or other technical variables (see Methods; Extended Data Fig. ...
such as China62. In the U.S., the estimated incidence of skin melanoma ranks fifth across all cancers in both genders, with a total of 106,110 cases in 20213. In contrast, only 7714 skin melanoma cases occurred in China (Globocan 2020). Despite the large difference in the incidence rat...
5A). Analysis of targeted mutations revealed that tumor tissues harbored more frequent WT allele than both 1C3-1 and tumor cell clones derived from tumor tissues, likely due to the presence of normal cells in subcutaneous tumor samples (Additional file 1: Table S6). Therefore, in order to ...