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

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 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, EMBA

SUBMITTER: Kerr K 

PROVIDER: S-EPMC6501961 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature