We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r² = 0.75 for variants with minor allele frequencies as low as 2 × 10⁻⁴ in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10⁻¹¹), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants.

我们使用英国基因组学 (GEL) 数据集中的 78,195 名个体构建了包含 3.42 亿常染色体变异的参考面板，欧洲样本的定相转换错误率为 0.18%，次要等位基因频率较低的变异的插补质量为r ² = 0.75在英国白人样本中为 2 × 10 ^-4 。 GEL 估算的英国生物银行全基因组关联分析确定了直接外显子组测序发现的 70% 的关联 ( P < 2.18 × 10 ^-11 )，同时将罕见变异的测试扩展到整个基因组。编码变异主导了罕见变异全基因组关联结果，这意味着罕见非编码变异的破坏性影响较小。