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Performance of add-on tags, categorized based on settings and methods.

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Figshare2022-01-13 更新2026-04-28 收录
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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.

探针数量(第2列)指用于对附加标签进行基因分型所需的总Illumina探针(Illumina Probe)数量。平均探针分型得分(第3列)用于估算所选附加探针的基因分型成功率。成功标记的基因型填充变异体(imputed variants)数量,可通过两种方式衡量:一是INFO得分出现提升的变异体(第4列),二是此前INFO得分低于0.8但最终超过0.8的变异体(第5列)。每标签与每探针维度的基因型填充变异体数量,分别指代每个附加标签、每个附加探针各自对应的存在基因型填充提升效果的基因型填充变异体数量。标准误(Standard Error, SE)用于表征不同基因组区域间,每标签与每探针维度指标的变异程度。AFGR占比与坦桑尼亚占比(%Tanz)分别指代基于AFGR参考面板或内部坦桑尼亚参考面板,基因型填充精度获得提升的基因型填充变异体所占比例。

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2022-01-13
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