Table 3.

Current primary technologies for detecting human genetic variants.

	Scope	Advantages	Limitations
Targeted gene panel	Captures variants within a few target genes (10s to 100s of genes)	- Disease-specific focus - High degree of customizability - Low cost and turnaround time	- List of all genes relevant to a disease needs to be explicitly defined beforehand - Needs to be updated as new disease genes are discovered
Whole exome sequencing	Captures variants within all exonic regions from the entire genome (~20,000 genes)	- Designed to capture all coding variants - Ideal for novel gene discovery in idiopathic conditions	- Misses non-coding and structural variants - Coverage and data quality can vary across genes
Whole genome sequencing	Captures variants from the entire genome	- More uniform coverage - Reveals non-coding and structural variants	- Lack of reliable tools to interpret non-coding variants - High cost, turnaround time and data storage requirements