GNPS - Undiagnosed Disease Network Study Results, CSF lipidomics and metabolomics

ABSTRACT: 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.

INSTRUMENT(S): LTQ Velos ETD, Agilent GC 7890A coupled with a single quadrupole MSD 5975C

ORGANISM(S): Homo Sapiens (ncbitaxon:9606)

SUBMITTER: Thomas Metz  

PROVIDER: MSV000085506 | GNPS | Fri May 29 14:10:00 BST 2020

REPOSITORIES: GNPS