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

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Mendeley Data2024-02-11 更新2024-06-27 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Haplotype-resolved_assemblies_and_variant_benchmark_of_a_Chinese_Quartet/24741805
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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.
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2024-02-11
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