孟德尔随机化中alternative allele(effect allele)在孟德尔随机化中,alternative allele(也称为 effect allele)是指与疾病发生关联的等位基因。它通常是主效等位基因,因为它对表型的影响较大,从而更容易被观察到。通过研究 alternative allele 与疾病发生风险之间的关系,我们可以更好地了解暴露因素对疾病的影响。 在遗传...
关联检验中的reference与risk/effect allele在关联检测中，reference allele（non-risk或non-effect）是效应估计的基准，与参考基因组中的ref/alt概念分离。早期研究中，minor allele常被作为reference allele，但现在，为了消除混淆，研究者倾向于保持与reference genome的统一。risk allele则是与疾病关联的allel...
在这里的概念再次改变,同样的reference allele,在与 risk/effect allele并列时,则指的是GWAS关联检测中的reference allele (non-risk 或者 non-effect),也就是效应量beta(或odds ratio)估计时的参考,概念上与上述参考基因组的ref与alt的组合无关,但为了保持统一性,近年来研究中关联检验的reference 也会与 reference...
However, in genome sequencing, an allele is one form of a sequence variant that occurs in any position on any chromosome, or a sequence variant on any sequence read aligned to the genome—regardless of its effect on phenotype, or even if it is in a gene. In some cases, “allele” is...
control a profile of alternative transcripts independently of its effect on AR target gene transcription. Even fewer studies have addressed the impact of ADT in the form of bicalutamide or enzalutamide on alternative splicing in preclinical CaP models [121,122]. To move forward with therapeutic strat...
The genomic mechanisms causing ASE have been indicated to be a combined cis and trans effect19. In the pres- ent study, even if there were no statistically significant differences in the allele frequencies of rs2227948 between CRC (or schizophrenia) and control group, the discrepancies in the ...
(12)).We found that PRR13,being demonstrated the most significant effect on cell proliferation in bladder cancer cell lines,was more highly expressed in bladder cancer tissues than in adjacent normal tissues.Moreover,the rs2683524 T allele was correlated with shorter 3′untranslated regions of PR...
The transgenic seedlings are adult-lethal. These phenotypes closely resemble that of severe cop-1 mutants, indicating that COP1b has a dominant negative effect on COP1 function. 展开 关键词: Key words Photomorphogenesis COP1 Alternative splicing Seedling development Arabidopsis thaliana ...
Alleles of small effect We modelled small allelic effects by examining one locus with two codominant alleles specifying very similar selfing rates, s and s+0.01. If the selfing allele was eliminated then the equilibrium selfing rate was lower than s. Likewise, if the outcrossing allele was ...
To further evaluate the interaction between the two promoters, we computed the correlation coefficient between P1 and P2 signals from the same (intra-allele) or different (inter-allele) hb loci in the nucleus using the same formula, where r1 and r2 denote the activities of individual P1 and ...