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...
频率次高的为 minor allele,对于最常见的bi-allelic SNP来说,两个allele频率一高一低,就是这个群体中这个snp的major和minor allele,对于tri- 或者quad-allelic SNP (位点有三种或四种碱基的SNP)而言,minor allele则是频率第二高的那个allele。
major allele 与 minor allele 通常针对某一大小确定的特定群体而言,频率最高的allele为该群体的major allele, 频率次高的为 minor allele,对于最常见的bi-allelic SNP来说,两个allele频率一高一低,就是这个群体中这个snp的major和minor allele,对于tri- 或者quad-allelic SNP (位点有三种或四种碱基的SNP)而言,mino...
Correlation of effect size and minor allele frequency.Michael, StocksRebecca, DeanBjörn, RogellUrban, Friberg
The A allele is thought to give rise to functional protein, whereas the G allele results in a truncated mRNA degraded through nonsense-mediated decay. Due to balancing selection of rs2248374, about one in four individuals are G/G at this locus globally and will hence be devoid of full ...
Due to these alterations, the Vandana allele might be a functional knock-out despite its RNA and protein expression. Thus, its possible complementation was assessed by over-expressing the Way Rarem allele in Vandana. These transgenic plants, especially the line V580, exhibited mar- ginally ...
Finally, the data also suggest the possibility that the sex chromosome-linked minor histocompatibility determinants may be polymorphic and thus capable of multiple allele expression. 展开 关键词: Animals Mice, Inbred C57BL Mice Graft vs Host Disease Disease Models, Animal Incidence Minor ...
Using the processed WGS, WGBS, and RNA-seq data for 128 benign prostate samples from the CPGEA cohort [15], we extracted genotype information for SNPs with rsIDs in dbSNP (build 151) and a minor allele frequency (MAF) greater than 0.05, and removed SNPs in high LD (squared correlation...
The most strongly associated SNP was the rs3796164*G allele with an effect allele frequency (EAF) of 0.04 in T2D patients with CVD and 0.01 in the reference set yielding a HRs (s.e; P value) of 2.92 (0.24; 7.95 × 10−6) per each effect allele (Supplementary Table S2a)....
We used logistic regression to test for an interaction between study group and these categories selected a priori: high-risk subgroup, black race, target INR of 1.8 vs 2.5, and CYP2C9 genotype. In the test of CYP2C9 genotype, we assigned 1 point for each CYP2C9*2 allele and 2 ...