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 genome保持一致,以避免混淆等。
adj. affording a choice of two or more things, propositions, or courses of action. (of two things, propositions, or courses) mutually exclusive so that if one is chosen the other must be rejected:The alternative possibilities are neutrality and war. ...
Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as the Genome Aggregation Database (gnomAD), have been created to serve as a global reference for such studies. ...
5). In other East Asian populations, the ChinaMAP panel consistently showed higher accuracy than the SEAD panel, while TOPMed consistently had the lowest accuracy (Supplementary Fig. 5). Fig. 3: The imputation performance in imputing East Asian populations. A Non-reference allele (NR-allele) ...
On the other hand, when a mystery mood is self-referent, a hot, motivational process is ii activated. In the case of a negative self-referent mood, which is akin to a self-esteem threat, it can result in using stereotyping as a way to restore one's self-esteem. Thus, the ...
(2b) Multi-allelic SNPs, indels, and complex variants (represented by yellow shapes, or variation in copy number) were placed onto the haplotype scaffold one at a time, exploiting the local linkage disequilibrium information but leaving haplotypes for other variants undisturbed39. (3) The ...
(Fig.5a–c), in addition to previously described haplotypes, we inferred the presence of five new haplotypes, which included one duplication allele ofRHDand one inversion allele betweenRHDandRHCEthat swaps the last exon of both genes. AroundHLA-A(Fig.5d–fand Supplementary Fig.12), two ...
2016 Current Online Version: 2016 eISBN: 9780199390069 Find at OUP.com Google Preview Inepigenetics, an interaction between two alleles of a single locus, resulting in a heritable change of one allele that is induced by the other allele. Paramutation violates ... ... ...
BIGSdb databases can be established for any bacterial species and comprise isolate provenance and phenotype data, sequence data from any source for each isolate and areference databasewhich details each allele at each locus and their known combinations, for that organism (Figure 2). These databases...
The pea genome shows the highest whole-genome mutation rate among the Leguminosae, as demonstrated by a shift in the pea PWGD-peak (mode at Ks = 1) compared to other species (for example, M. truncatula at Ks = 0.83 and G. max at Ks = 0.61; Supplementary Fig. 7 and ...