遇见数据集

ROCIT Example Data and Cell Atlas Reference

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Zenodo2026-03-06 更新2026-05-26 收录
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This release contains two files for use with the ROCIT toolkit for read-origin classification in tumors using CpG methylation data obtained from long-read whole-genome sequencing. cell_map_reference_atlas.parquet — Precomputed reference CpG methylation atlas derived from normal human cell types. This file is required by ROCIT for tumor-origin classification. Derived from the normal human cell-type methylation data released by Loyfer et al. Loyfer, N., et al. (2023). A DNA methylation atlas of normal human cell types. Nature. HG008_example_data.tar — Example input files for the ROCIT preprocessing pipeline, derived from HG008 tumor and matched normal HiFi reads sequenced with Pacbio Revio. Includes a subsampled BAM file (with index), copy number, haplotype, variant, and cluster annotation tables. McDaniel, J.H., Patel, V., Olson, N.D. et al. (2025). Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair. Scientific Data.

本发布包包含两份文件,供ROCIT工具包使用,该工具包用于基于长读长全基因组测序(long-read whole-genome sequencing)获取的CpG甲基化(CpG methylation)数据,开展肿瘤的读段起源分类任务。 cell_map_reference_atlas.parquet —— 预计算生成的参考CpG甲基化图谱,源自正常人类细胞类型。ROCIT工具包进行肿瘤起源分类时必须依赖该文件,其数据源自Loyfer等人发布的正常人类细胞类型甲基化数据集。 Loyfer, N. 等 (2023). 正常人类细胞类型的DNA甲基化图谱. 《自然》(Nature). HG008_example_data.tar —— 用于ROCIT预处理流程的示例输入文件,数据源自HG008肿瘤样本及其配对正常样本的HiFi读段(HiFi reads),采用PacBio Revio平台完成测序。该文件包含经下采样的BAM文件(BAM file,含索引文件)、拷贝数表、单倍型表、变异注释表及聚类注释表。 McDaniel, J.H., Patel, V., Olson, N.D. 等 (2025). 经广泛知情同意的瓶中基因组(Genome in a Bottle)配对肿瘤-正常样本的开发与深度测序. 《科学数据》(Scientific Data).

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2026-03-06
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