Transcriptional biomarkers--high throughput screening, quantitative verification, and bioinformatical validation methods

Methods. 2013 Jan;59(1):3-9. doi: 10.1016/j.ymeth.2012.08.012. Epub 2012 Sep 4.

Abstract

Molecular biomarkers found their way into many research fields, especially in molecular medicine, medical diagnostics, disease prognosis, risk assessment but also in other areas like food safety. Different definitions for the term biomarker exist, but on the whole biomarkers are measureable biological molecules that are characteristic for a specific physiological status including drug intervention, normal or pathological processes. There are various examples for molecular biomarkers that are already successfully used in clinical diagnostics, especially as prognostic or diagnostic tool for diseases. Molecular biomarkers can be identified on different molecular levels, namely the genome, the epigenome, the transcriptome, the proteome, the metabolome and the lipidome. With special "omic" technologies, nowadays often high throughput technologies, these molecular biomarkers can be identified and quantitatively measured. This article describes the different molecular levels on which biomarker research is possible including some biomarker candidates that have already been identified. Hereby the transcriptomic approach will be described in detail including available high throughput methods, molecular levels, quantitative verification, and biostatistical requirements for transcriptional biomarker identification and validation.

MeSH terms

  • Animals
  • Biomarkers / metabolism
  • Cluster Analysis
  • Computational Biology
  • Gene Expression Profiling / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Diagnostic Techniques
  • Oligonucleotide Array Sequence Analysis
  • Principal Component Analysis
  • RNA / genetics*
  • RNA / metabolism
  • Sequence Analysis, RNA
  • Software
  • Transcription, Genetic
  • Validation Studies as Topic

Substances

  • Biomarkers
  • RNA