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[Preprint]. 2024 Dec 5:2024.12.02.625685. [Version 1] doi: 10.1101/2024.12.02.625685

Table 1 -.

GIAB AJ trio (HG002 - son, HG003 - father, and HG004 - mother) and orthogonal datasets for HG002 mosaic benchmark generation. Sequencing data was generated using NIST reference material DNA (NIST RM 8391 for HG002 and NIST RM 8392 trio). See supplemental table 6 for non-reference material (Coriell - NA24385) datasets.

Library NIST ID Coverage SRA Accession # Publication
Illumina 2×148bp HG002 300× SRX847862-SRX848005 Zook et al. 2016
Illumina 2×148bp HG003 300× SRX848006-SRX848173 Zook et al. 2016
Illumina 2×148bp HG004 300× SRX848174-SRX848317 Zook et al. 2016
BGI 2×150bp HG002 100× SRX22242218 This study
Element 2×150bp, standard HG002 81× SRR30945810 This study
Element 2×150bp, long insert HG002 55× SRR30945809 This study
PacBio HiFi Sequel 10kb HG002 30× SRX5327410 Wenger et al. 2019
PacBio HiFi Sequel 15kb HG002 28× SRX6908796, SRX6908797, SRX6908798 Unpublished
PacBio HiFi Revio 20kb HG002 48× NA Unpublished*