Table 1 The main omics techniques and their characteristics: the biological material analyzed, the major methodologies applied and the type of information achievable with them

Genomics

DNA

Whole-genome sequencing

Complete genome sequence for identification of coding and non-coding sequence variants

Exome sequencing or clinical exome-sequencing

Sequencing of protein-coding regions of the genome or genes known to be associated to a clinical phenotype

Comparative genomic hybridization (aCGH)

Analysis of copy number alterations in the genome (comparison with a reference genome/sample)

Epigenomics/Transcriptomics

DNA/RNA

Whole or targeted DNA methylation

Identification of disfunctions in regulatory elements

Whole or targeted miRNA

Sequencing or detection of differential expression of miRNA

Whole or targeted long noncoding RNA

Sequencing or detection of differential expression of long noncoding RNA

Whole or targeted mRNA

Sequencing or detection of differential expression of coding genes