Additional file 2 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
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Additional file 2: Table S1. Data from multiple short-read and long-read sequencing platforms were obtained to detect and validate small variant and structural variant benchmark calls in the Quartet reference samples. Table S6. Validation of small variants by PacBio CCS, which are reproducible among call sets and Mendelian consistent in the Quartet family. Table S7. Validation of small variants by PMRA, which are reproducible among call sets and Mendelian consistent in the Quartet family. Table S8. Statistics of de novo SVs for the Quartet family. Table S9. Validation of SV benchmark calls by Illumina short-reads, 10x Genomics, BioNano, and assembly PacBio reads. Table S10. Datasets for proficiency test analysis and batch effect analysis [65].
创建时间：
2023-11-27
