Performance of add-on tags, categorized based on settings and methods.
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Number of probes (Column 2) indicates the total number of Illumina probes that are required to genotype the add-on tags. The mean probe-ability score (Column 3) estimates the genotyping success rate for the selected add-on probes. The number of successfully tagged imputed variants are measured by either any improvement in INFO score (Column 4), or those exceeding INFO score of 0.8 when previously below (Column 5). Per probe and per tag indicate the number of imputed variants with imputation improvements per add-on tag and add-on probe respectively. Standard error (SE) represents variability of the per tag and per probe metric across different genomic regions. �GR and %Tanz indicate the proportion of imputed variants with better imputation accuracy based on the AFGR or internal Tanzanian reference panel respectively.
第2列的探针数量(Number of Probes)指的是用于对附加标签进行基因分型所需的Illumina探针(Illumina Probes)总数量。第3列的平均探针适配得分(mean probe-ability score)用以估算所选附加探针的基因分型成功率。成功标记的填充变异(imputed variants)数量可通过两类标准判定:其一为INFO得分(INFO Score)出现提升的变异(对应第4列),其二为既往INFO得分低于0.8、当前突破该阈值的变异(对应第5列)。每标签指标与每探针指标(Per probe and per tag)分别代表每个附加标签对应的存在填充提升的填充变异数量,以及每个附加探针对应的该类变异数量。标准误(Standard Error,SE)用以描述每标签与每探针指标在不同基因组区域间的变异程度。AFGR与%Tanz分别代表基于AFGR面板与坦桑尼亚内部参考面板,填充精度得到提升的填充变异占比。
创建时间:
2022-01-13



