Qualitative Trait: the clinical condition is either present or absent. Quantitative Trait: the clinical condition with a measurable quantity that differs among individuals (measurable). For example:blood pressure, cholesterol level, height etc. Variation among individuals is due to ...
Monogenic Trait vs. Polygenic Trait As mentioned earlier, a monogenic trait is a trait that results when a single gene or a pair of alleles is expressed. In one of Mendel’s breeding experiments, this would be exemplified by the seed color of the garden pea. A cross between a true-...
Covariance among gene expression and pharmacological and behavioral traits is often highly significant, corroborates known functional relations and is often generated by common quantitative trait loci. We found that a small number of major-effect quantitative trait loci jointly modulated large sets of ...
Integrating single cell expression quantitative trait loci summary statistics to understand complex trait risk genes Article Open access 20 May 2024 Data availability We release our data at https://figshare.com/projects/Single-cell_Disease_Relevance_Score_scDRS_/118902 (ref. 72) (instructions ...
We tested autosomal genetic variants for association with MASLD, assuming an additive allelic effect and using FastGWA-GLMM [25] implemented in Genome-wide Complex Trait Analysis software to account for population structure and cryptic relatedness. All models included the following covariates as fixed ...
If feasible, we also wanted to know how much of the trait variation can be captured by the predicted transcriptome. For this purpose, we calculated the proportion of variance explained (PVE) by the predicted transcriptome assuming random effects of gene expression levels. The approach is analogous...
[4] for a recent comprehensive review of PGS development methodologies). The major advancements used to close the transferability gap are primarily based on ensembling and leveraging multi-ancestry and multi-trait data and incorporating functional information to identify more likely causal variants. ...
Single trait PGS are shown in light orange, and MultiPGS shown in dark orange. Significant associations have p-values displayed. Case numbers for each phenotype are indicated by N = . CVD, cardiovascular disease; DLD, dyslipidaemia; HA, heart attack; HTN, hypertension; OBS, obesity; T2D...
We identified high-risk CNVs (DECIPHER CNVs, risk gene deletions, or large [>1 Mb] CNVs) in 744 study participants (2.66%), 36 (4.8%) of whom had a diagnosed SNPD. In the remaining 708 unaffected carriers, we observed lower educational attainment (EA; OR = 0.77 [95% CI 0.66...
12.17: Polygene Merkmale Wenn mehr als ein Gen für einen bestimmten Phänotyp verantwortlich ist, gilt das Merkmal als polygen. Bei der menschlichen Körpergröße handelt es sich beispielsweise um ein polygenes Merkmal. Studien haben Hunderte von Loci aufgedeckt, welche die ...