Additional file 1 of Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

Additional file 1: Table S1. Sequencing summary of the Chinese Quartet. Table S2. Summary of phased reads from two haplotypes. Table S3. Summary statistics of the Chinese Quartet assemblies. Table S4. Assembly summary of the Chinese Quartet and other samples. Table S5. Distribution of contigs in Chinese Quartet assemblies. Table S6. The aligned fraction to GRCh38 of the Chinese Quartet haplotypes. Table S7. Completeness summary of our assemblies and other public papers. Table S8. Annotations of novel genes in Chinese Quartet. Table S9. Summary of Complex SVs and inversion of Chinese Quartet. Table S10. Information of de novo and putative somatic mutation. Table S11. Summary of VEP annotations for benchmarks. Table S12. Manual inspection result of 20 random false positives and false negatives for each variant type. Table S13. Detailed results of manual curations in Table S12. Table S14. Assembly performance at different sequencing depths of the Chinese Quartet. Table S15. Variant detection performance at different sequencing depths of the Chinese Quartet.附加文件1：表S1。中国四重样本（Chinese Quartet）的测序汇总。表S2。两种单倍型的分相reads汇总。表S3。中国四重样本组装的统计汇总。表S4。中国四重样本与其他样本的组装汇总。表S5。中国四重样本组装中重叠群（contig）的分布。表S6。中国四重样本单倍型与GRCh38的比对比例。表S7。本研究组装结果与其他已发表文献的完整性汇总。表S8。中国四重样本中新发基因的注释。表S9。中国四重样本的复杂结构变异（Structural Variant，SV）与倒位汇总。表S10。从头突变（de novo）与推定体细胞突变的相关信息。表S11。基准测试的变异效应预测器（Variant Effect Predictor，VEP）注释汇总。表S12。每种变异类型的20个随机假阳性与假阴性结果的人工核查结果。表S13。表S12中人工校正的详细结果。表S14。中国四重样本在不同测序深度下的组装性能。表S15。中国四重样本在不同测序深度下的变异检测性能。