SweGen variants called using T2T-CHM13.

The original VCF was generated using GATK haplotype caller's joint-germline mode.rsIDs were added using bcftools annotate and functional predictions using SnpEff and RefSeq 5.1 provided by the T2T-Consortium.All individual-level data were removed using bcftools view --drop-genotypes.This step removes all sample information and the FORMAT column.Only cohort-level statistics and information dependent on the allele and variant site, but not any single individual, remained.原始VCF（Variant Call Format，变异呼叫格式）采用GATK（Genome Analysis Toolkit，基因组分析工具包）单倍型呼叫器的联合生殖系模式生成。rs编号通过bcftools annotate工具添加，功能预测则由T2T-Consortium（端粒到端粒联盟）提供的SnpEff软件与RefSeq 5.1数据库完成。所有个体级数据通过执行bcftools view --drop-genotypes命令被移除，该步骤会删除所有样本信息与FORMAT列，最终仅保留队列级统计信息，以及仅依赖等位基因与变异位点、不涉及任何单个个体的相关内容。