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TETRIS-seq demo data: Horizon Myeloid DNA Reference Standard HD829, SNV/indel panel subset

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Zenodo2026-09-26 更新2026-10-01 收录
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A small demonstration dataset for the TETRIS-seq duplex sequencing pipeline (https://github.com/the-blundell-lab/TETRIS-seq), accompanying Watson et al., "Evolutionary dynamics in the years preceding acute myeloid leukaemia". Horizon Discovery Myeloid DNA Reference Standard HD829, sequenced on the TETRIS-seq SNV/indel panel (library SLX-20548, index xGenUDI1). The full capture is 12.4 GB; this is a locus-restricted subset retaining every read that aligns within 150 bp of the 14 certified single-nucleotide variant positions, or across the FLT3 internal tandem duplication region. Reads were selected by locus rather than by downsampling, so every UMI family at those positions is retained intact and duplex consensus calling behaves as it does on the full library. Running the pipeline on these files reproduces 13 of the 14 certified variant allele fractions exactly, the fourteenth to within one reference read, and calls the certified FLT3-ITD. Expected output, run time and instructions are in demo/README.md in the software repository. Files: paired FASTQ (read 1, read 2), the sample-index CSV required to run the pipeline and the BED of retained regions.

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Zenodo
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2026-09-26
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