与plink1.9不同,plink2使用的概念则是reference 与 alternative allele,进行操作时不会自动依据频率而改变ref与alt的排序,使用plink2 的—frq选项计算频率,你会发现输出的文件中是alternative allele frequency (不是MAF),取值范围为[0,1]。 PLINK2中则明确区分了reference 与 alternative allele的概念,例如上述的两个...
With regard to allele distribution of the TJP1 gene polymorphism rs2291166 relative frequency (rf) in the total mestizo Mexican population analysed was as follows: 0.978 (n = 925) for the ancestral or wild-type T and 0.022 (n = 21) for the G allele (Fig. 2). MAF rate was G = 0.02...
et al. High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme. Pharmacogenomics J 15, 288–292 (2015). https://doi.org/10.1038/tpj.2014.67 Download citation Received23 May 2014 Revised11 September 2014 ...