Fig. 1: Flow chart of the review process.
From: Review: Utility of mass spectrometry in rare disease research and diagnosis
We searched two databases, PubMed and MEDLINE, to generate the list of articles for review. A combination of different search terms, including 'rare disease', 'rare condition', 'diagnosis', 'mutation', 'mass spectrometry' and 'proteomics' were used. A total of 267 publications from both databases were selected for further analysis. Thirteen publications were duplicated and, therefore, removed from the list. This left us with 254 publications for the next filtering step. We first screened the title of all 254 publications and excluded 60 that were either general review articles or publications that related to monogenic germline cancer studies. The resultant 194 publications were all research articles focusing on monogenic inherited diseases. They were all retrieved and assessed for their eligibility to be included in this manuscript. We then excluded 25 publications that were not MS-based omics studies. This left a total of 169 publications that were included in this final manuscript.
