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Sequencing run summaries, QC reports and 5mC methylation summaries for Oxford Nanopore PromethION sequencing of the seven GIAB reference samples

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Zenodo2026-08-19 更新2026-08-20 收录
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Per-read sequencing summaries, pycoQC quality-control reports, NanoStat summaries and aggregated 5mC methylation calls from Mason Lab (Weill Cornell Medicine) Oxford Nanopore PromethION sequencing of the seven NIST Genome-in-a-Bottle (GIAB) reference samples. Samples: HG001/NA12878 (CEPH), HG002/NA24385, HG003/NA24149, HG004/NA24143 (Ashkenazi trio), HG005/NA24631, HG006/NA24694, HG007/NA24695 (Han Chinese trio). Sequencing was performed on a PromethION (device PCT0080, R9.4.1 flow cells) across three batches in 2019-2020; the summaries here correspond to the 2019 batch, with NanoStat summaries from the 2020 batch also included. The per-read sequencing summaries are the authoritative record of read counts and yields for these runs. Note that the previously circulated concatenated *_combined.txt files are defective - they dropped the header and the first data row of every constituent summary file, and are therefore short by exactly one read per summary - and are deliberately excluded here in favour of the intact per-file summaries. The corresponding raw nanopore signal data (multi-read FAST5) is deposited separately in the European Nucleotide Archive under study PRJEB123819, as thirteen runs across seven samples: seven complete runs from the 2019 batch, and six further runs from 2020-05-27 that contain only the reads skipped by the sequencer during those runs and are therefore partial. Data originally written as single-read FAST5 was converted to multi-read FAST5 before deposition, verified lossless by read-count reconciliation, read-ID set equality and byte-level signal comparison.

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2026-08-19
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