Table 1. Datasets used for MAGERI benchmark.
Dataset | Source | UMI tagging method | Sequencing method | Control variants |
---|---|---|---|---|
Tru-Q 7 | This study | Linear PCR | Illumina HiSeq | 27 substitutions, 1 deletion. Variant frequency 1–30%, see S2 Table for details |
Tru-Q 7, 1:9 diluted with healthy donor PBMC DNA | This study | Linear PCR | Illumina HiSeq | 27 substitutions, 1 deletion. Variant frequency 0.1–3%, see S2 Table for details |
Healthy donor PBMC DNA | This study | Linear PCR | Illumina HiSeq | None, all variants are either allelic or erroneous |
Tumor and plasma DNA from two cancer patients | This study | Linear PCR | Illumina HiSeq | BRAF V600E in tumor |
Duplex sequencing | [43] | Ligation | Illumina HiSeq | ABL1 E279K at 1% frequency |
HIV amplicon sequencing | [37] | RT-PCR | Illumina MiSeq | N/A* |
Torrent | [38] | PCR | Ion Torrent | N/A** |
*—no intrinsic control variants available. Two samples were used: supernatant from 8E5 cell line that should yield unmutated HIV cDNA and HIV cDNA from patient plasma.
**—only sequencing data for a single template with no appropriate variants is publicly available