In practice, implementing this strategy is complicated by high correlations among all these variables, which creates an identifiability challenge. Our key intuition is that causal signals in a genomic region affecting a phenotype of interest, whether via gene expression or variants, are likely sparse...
Each mammalian autosomal gene is represented by two alleles in diploid cells. To our knowledge, no insights have been made in regard to allele-specific regulatory mechanisms of autosomes. Here we use allele-specific single cell transcriptomic analysis to
Browning genes code for tyrosinase related protein-1 (TYRP1) , an enzyme involved in the metabolic pathway for eumelanin pigment production. The dominant form, B, produces black color. Recessive variants are b (chocolate) and bl (cinnamon/light brown). B - Black/Brown Locus Genotype ...
often refers to what is known more accurately as an allele. The notion of a gene has evolved with the science of genetics, which began when Gregor Mendel noticed that biological variations are inherited from parent organisms as specific, discrete traits. The biological entity responsible for defini...
Importantly, many rare and complex diseases are associated with genes from members of the Wnt pathway (Table 1). Since treatments for bone density diseases target genes that cause rare monogenic bone diseases, a comprehensive understanding of the causal variants and genes is fundamental. This review...
Selective signal detection is essential for understanding the origin of livestock breeds and the genetic processes influencing phenotypic differentiation. In addition, detecting selection signals is of great significance for characterizing genetic resources of livestock and identifying genetic variants that lead...
An example of this is seen in small colony variants (SCVs) of S. aureus, which alters its cell respiratory electron transport chain in order to avoid the action of aminoglycoside. iv. Reduced access to drug target site or decreased intracellular drug accumulation either by reducing cell ...
Genetic variants may reflect the effect of lifelong exposure on an outcome. Although results from these analyses cannot be directly translated into effects of short-term drug treatment on disease risk, they may prove useful in estimating effects of long-term exposure beyond what is feasible in RCT...
Study design : Variants within and upstream or downstream of PPARA, PPARD, CLOCK/TMEM165, PER1, PER2 and PER3 genes were genotyped in 716 individuals with T2D (A) and 569 normoglycemic controls (B), and allele frequencies were compared between the groups in a case control study design. ...
By looking at the interplay between eQTL variants, transposable elements, and gene expression, we are able to dissect eQTL effects and show that for several genes, the genetic effect of an eQTL is passed on genes through TEs which act as mediators and drive gene expression. We observe this ...