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...
not locate any studies that directly assessed the effect of docetaxel on the CaP alternative transcriptome. A few studies did report on alternative splicing events that contribute to CaP’s docetaxel resistance. We already mentioned the FGFR3-S variant that is preferentially expressed in African Ameri...
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 used interchangeably with the te...
Haplotypes of 3, 4, or 5 SNP were selected from short genomic windows surrounding these markers to capture the effect of the QTL. Two methods described in this paper aim at selecting the most optimal haplotype for genomic evaluation. They assumed that if an allele has a high frequency, its...
This effect has been proposed as a mechanism for transcriptional bursting60,61,62, consistent with our observation of bursty P1 transcription. Moreover, our observation that the percentage of active P1 loci increased with the nuclear cycle suggests a gradual increase in chromatin opening frequency ...
The expression of GFP-GFAP-ϵwt led to a distribution among the three groups similar to that reported for GFP-GFAP-αwt[14] (Figure 2C) indicating no intrinsic damaging effect of recombinant GFP-GFAP-ϵwt in our experimental conditions. Contrariwise, expression of mutant GFP-GFAP-ϵR...
This variability likely impacts the ability of MDR to detect the effect of that model, as MDR does not measure an effect based on the penetrance table directly, but rather on the derived two-way contingency table. A second possible scenario is that these penetrance models were generated with ...
g, Positional effect of QKI binding in brain and heart. Distribution of the ACTAAC hexamer in introns flanking brain (left) and heart (right) devAS exons. Data were combined across species (see Supplementary Fig. 13 for species-specific plots). Right panel: potential mechanism underlying ...
27 The common shared homozygous regions were queried for single-nucleotide polymorphisms with a minimal coverage of 8 reads and an allele frequency of 70% or less. The constructed genotypes at those loci were compared to establish a putative common haplotype surrounding the NDUFS6 homozygous variant...