Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
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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 (sean.froese@kispi.uzh.ch).For technical questions contact Vito Zanotelli (vito.zanotelli@kispi.uzh.ch) 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
