The deposited data were collected from 148 patients and 133 family members accepted into the Undiagnosed Diseases Network (https://undiagnosed.hms.harvard.edu/). The NIH Common Fund Undiagnosed Diseases Network (UDN) seeks to provide diagnoses for individuals with undiagnosed disease. Here, we report and provide the mass spectrometry-based metabolomics (GC-MS) and lipidomics (LC-MS/MS) analyses of cerebrospinal fluid from 148 patients and 133 family members. We have deposited mass spectrometry-based metabolomics and lipidomics files including instrument files, normalized data processed files to allow for statistical analysis, and metabolomics and lipidomics results for each patient and associated relatives. In addition, as part of the mass spectrometry data made available, we have included mass spectrometry analyses and results from a reference population of individuals with no known metabolic diseases. UDN patients suffer from undiagnosed diseases and thus are typically represented as a sample size of one; therefore, understanding normal variation within a proband's condition needs to be measured against of dataset of normal individuals, which is included here.
[doi:10.25345/C5RH5D]
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: metabolomics ; lipidomics ; rare disease ; undiagnosed diseases ; cerebrospinal fluid
Principal Investigators: (in alphabetical order) |
Thomas Metz, Pacific Northwest National Laboratory, USA |
Submitting User: | alchemistmatt |
Kyle JE, Stratton KG, Zink EM, Kim YM, Bloodsworth KJ, Monroe ME, Undiagnosed Diseases Network, Waters KM, Webb-Robertson BM, Koeller DM, Metz TO.
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
Sci Data. 2021 Apr 21;8(1):114. Epub 2021 Apr 21.
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