高pLI分数(接近1)表示该基因可能无法容忍LoF变异,即LoF变异可能导致疾病。这通常用于评估基因的致病性。 AF_gnomAD_2.1.1: 这是指在gnomAD数据库(Genome Aggregation Database)版本2.1.1中观察到的等位基因频率(Allele Frequency)。这个频率显示了在广泛人群中特定变异的普遍程度。较低的频率可能表明变异与疾病相关。
plink2 --gen chr22_imputed_partag_imputed ref-last --sample mpute2_sample --missing-code -9 --double-id --oxford-single-chr 22 --export vcf 'vcf-dosage=GP' --out chr22_imputed_partag_imputed_vcf 终极解决方案:自己使用python将vcf转化,并且使用bcftools重新计算AF(allele frequency,一般情况下...
It has been shown that pigeon fanciers with HP have an increase in the frequency of HLA-DRB1*1305 and HLA-DQB1*0501 alleles, a decrease in the frequency of the HLA-BRB1*0802 allele, and an increased frequency of the TNF-2 (-308) polymorphism of the TNF-alpha promoter gene.A careful...
Other groups also reported its trend toward association due to an increase in the minor allele frequency in patients as compared to controls [18]. Our observation of the highest cellular toxicity being exerted by this mutant in the absence of H2O2, while the lowest toxicity in the presence of...
there was no difference in the frequency of c-sections between immigrants, women with second or third generation migration background and women without migration background. However, this study showed that for the rare event of an emergency c-section (event overall: 1.58% of all births) an ...
Google Preview A condition in which alleles at two loci or genes are found together in a population at a greater frequency than predicted simply by the product of their individual allele frequencies. Alleles at markers near disease-causing genes tend to be in linkage disequilibrium in the affected...
Ion AmpliSeq™ technology introduces a groundbreaking workflow enabling the rapid sequencing of hundreds of mutations with low allele frequency using as little as 10ng of DNA per reaction. The OncoNetwork Consortium is a European collaborative effort of 8 Cancer Translational Research Institutions to ...
MAF=minor allele frequency, HWE=Hardy Weinberg Equilibrium, f=female, m=male. ProbABEL Nature Genetics: doi:10.1038/ng.571 4 Supplementary Table 3. Sample quality control for studies in the TAG Consortium. Study Call rate Population-based cohort studies ARIC >90% BLSA >97% CHS InCHIANTI ...
Sporadic ATM mutations occur in 10-20% of chronic lymphocytic leukemia and are often associated with chromosome 11q deletions which cause loss of an ATM allele. The role of constitutional ATM mutations in the pathogenesis of chronic lymphocytic leukemia is unknown...
The sixth patient was positive for HLA-DQB1 * 0302 allele, which was also found in 241 of 421 of those without coeliac disease ( p = 0.4). Conclusion/interpretation: We found the prevalence of coeliac disease among siblings of children with Type I diabetes to be similar to figures ...