Abstract
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 multiomics 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 language | English |
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Article number | e026278 |
Number of pages | 4 |
Journal | BMJ Open |
Volume | 9 |
DOIs | |
Publication status | Published - 05 May 2019 |
Keywords
- rare disease
- omic
- review