Table 2.

Application of molecular biomarkers in rare diseases.

Data type	Sequencing technology	Examples	Reference
Genomics	WGS, WES	Identify agalA mutations determining clinically relevant FD.	[23]
		Perform STK11 genetic screening test and investigate the genotype-phenotype correlation in PJS.	[24]
Transcriptomics	RNA-seq, RT-qPCR	Investigate possible lncRNA biomarkers to differentiate phenotypic severity in MS.	[26]
		Perform qRT-PCR on a set of lncRNAs to identify lncRNAs associated with ENS development in HSCR.	[27]
		Assess levels of CASC2 and miR-21 and their interplay in glioma.	[28]
Metabolomics	NMR, MS	Detect lyso-Gb3-related FD biomarkers in urine using mass spectrometry metabolomic approach.	[30]
		Perform metabolomic study to identify novel GD biomarkers.	[31]
Proteomics	MS	Identify gender-specific plasma protein biomarker panels for AFD.	[32]
		Perform serum proteomics profiling in CF patients and healthy subjects.	[33]
		Assess proteome changes in peripheral blood mononuclear cells from FD patients and healthy controls.	[34]

WGS: whole-genome sequencing; WES: whole-exome sequencing; NMR: nuclear magnetic resonance; MR: mass spectrometry