Protocol for a scoping review of multi-omic analysis for rare diseases

Katie Kerr, Helen McAneney, Amy Jayne McKnight

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


INTRODUCTION: The development of next generation sequencing technology has enabled cost-efficient, large scale, multiple 'omic' analysis, including epigenomic, genomic, metabolomic, phenomic, proteomic and transcriptomic research. These integrated approaches hold significant promise for rare disease research, with the potential to aid biomarker discovery, improve our understanding of disease pathogenesis and identify novel therapeutic targets. In this paper we outline a systematic approach for a scoping review designed to evaluate what primary research has been performed to date on multi-omics and rare disease.

METHODS AND ANALYSIS: This protocol was designed using the Joanna Briggs Institute methodology for scoping reviews. Databases to be searched will include: MEDLINE, EMBASE, PubMed, Web of Science, Scopus and Google Scholar for primary studies relevant to the key terms 'multi-omics' and 'rare disease', published prior to 30th December 2018. Grey literature databases GreyLit and OpenGrey will also be searched, as well as reverse citation screening of relevant articles and forward citation searching using Web of Science Cited Reference Search Tool. Data extraction will be performed using customised forms and a narrative synthesis of the results will be presented.

ETHICS AND DISSEMINATION: As a secondary analysis study with no primary data generated, this scoping review does not require ethical approval. We anticipate this review will highlight a gap in rare disease research and provide direction for novel research. The completed review will be submitted for publication in peer-reviewed journals and presented at relevant conferences discussing rare disease research and/or molecular strategies.

Original languageEnglish
Article numbere026278
JournalBMJ Open
Issue number5
Publication statusPublished (in print/issue) - 5 May 2019

Bibliographical note

© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.


  • Biomarkers/analysis
  • Biomedical Research/methods
  • DNA Mutational Analysis
  • Epigenomics
  • Gene Expression Profiling
  • Genomics
  • Humans
  • Metabolomics
  • Phenomics
  • Proteomics
  • Rare Diseases/diagnosis
  • Research Design
  • Review Literature as Topic


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