Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Dataset: Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Background This repository is to share public data associated to the paper:Forny, P., Bonilla, X., Lamparter, D. et al. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nat Metab 5, 80–95 (2023). https://doi.org/10.1038/s42255-022-00720-8 Due to ethics constraint only pseudomized data is made available. Raw genomics / transcriptomics data cannot be shared, instead we share quantified data matrices.Specific analyses requiring raw genomics/transcriptomics data may be feasible in a collaborative projects with data remaining in our secure processing environment.Please contact us for such requests. Content Metabolomics: - quantified: export_metabolomics.zip, see README in folder for more details - raw: MassIVE MSV000089082 Transcriptomics: - quantified: export_rnaseq.zip, see README in folder for more details - raw: not public Proteomics: - raw: MassIVE MSV000088791 - protein report: 20190305_PHRT-5_MMA_Normalized-Protein-Report.csv - peptide report: 20190305_PHRT-5_MMA_Normalized-Peptides-Report.csv - sample annotation: 202502_PHRT-5_MMA_Sample-annotation.tsv Phenotypes: - Phenotypes form supplementary table with data dictionary and extended by age at extraction estimate: 42255_2022_720_MOESM4_ESM_SourceDataFig2_extended.xlsx - Original supplementary dable: 42255_2022_720_MOESM4_ESM.xlsx Genomics: raw: not public Variant overview: In supplementary table 1 Code: The original publication code is deposited on github Contact For further questions about data access contact Sean Froese ([e-mail]).For technical questions contact Vito Zanotelli ([e-mail]) Citation Please always cite the original publication as well when refering to this dataset. Forny, P., Bonilla, X., Lamparter, D. et al. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nat Metab 5, 80–95 (2023). https://doi.org/10.1038/s42255-022-00720-8数据集：整合多组学揭示甲基丙二酰辅酶A变位酶（methylmalonyl-CoA mutase）缺乏症中的回补途径重编程 ## 背景 本数据集仓库用于共享与以下论文相关的公开数据： Forny, P., Bonilla, X., Lamparter, D. 等. 整合多组学揭示甲基丙二酰辅酶A变位酶缺乏症中的回补途径重编程. 《自然·代谢》(Nat Metab) 5, 80–95 (2023). https://doi.org/10.1038/s42255-022-00720-8 受伦理约束，仅可共享经伪匿名化处理的数据。原始基因组/转录组数据无法公开，本仓库仅提供已定量的数据矩阵。若有特定分析需使用原始基因组/转录组数据，可与我们开展合作项目，相关数据将留存于我方安全处理环境中。此类数据访问请求请联系我们。 ## 数据内容 ### 代谢组学 - 定量数据：export_metabolomics.zip，详情请见文件夹内的README文件 - 原始数据：MassIVE MSV000089082 ### 转录组学 - 定量数据：export_rnaseq.zip，详情请见文件夹内的README文件 - 原始数据：未公开 ### 蛋白质组学 - 原始数据：MassIVE MSV000088791 - 蛋白质报告文件：20190305_PHRT-5_MMA_Normalized-Protein-Report.csv - 肽段报告文件：20190305_PHRT-5_MMA_Normalized-Peptides-Report.csv - 样本注释文件：202502_PHRT-5_MMA_Sample-annotation.tsv ### 表型组学 - 扩展补充表型数据（含数据字典及提取时年龄估算）：42255_2022_720_MOESM4_ESM_SourceDataFig2_extended.xlsx - 原始补充表：42255_2022_720_MOESM4_ESM.xlsx ### 基因组学 - 原始数据：未公开 - 变异概览：见补充表1 ## 代码 本论文的原始代码已上传至GitHub平台。 ## 联系信息 若需进一步咨询数据访问相关事宜，请联系Sean Froese（邮箱：[e-mail]）。 若有技术相关问题，请联系Vito Zanotelli（邮箱：[e-mail]）。 ## 引用说明 当引用本数据集时，请务必同时引用原始论文： Forny, P., Bonilla, X., Lamparter, D. 等. 整合多组学揭示甲基丙二酰辅酶A变位酶缺乏症中的回补途径重编程. 《自然·代谢》(Nat Metab) 5, 80–95 (2023). https://doi.org/10.1038/s42255-022-00720-8