Sequencing Technology Comparison
Variant detection comparison
Sanger | NGS Panels | Exomes | Genomes | Long-Read Genomes | |
Hypothesis-driven | Yes | Yes | No | No | No |
Requires phenotyping | No | Depends | Yes | Yes | Yes |
VUS results † | Low | High | Moderate | Moderate | Moderate |
SNV exonic | Included | Included | Included | Included | Included |
SNV intronic, regulatory | Limited* | Limited* | Limited* | Included | Included |
SNV non-protein coding | Not included | Not included | Not included | Included | Included |
Short tandem repeats | Not included | Not inclulded** | Not included | Included | Included |
CNV | Not included | Limited*** | Limited*** | Included | Included |
*Typically 10-20 bp of exon-flanking sequence will be included, but not more.
**As most panels are performed on an exome backbone, repeat expansios are excluded. Panels on a genome backbone may include repeat expansions.
***Review limitations and lower limits of detection for each provider.
† Rehm et al. Genet Med. 2023 Dec;25(12):100947.
CNV and related variant detection comparison
Sanger | NGS Panels | Exomes | Genomes | Long-Read Genomes | |
Deletions | Not included | Varies | >3 exons (intragenic) | Any size* (inter and intragenic) | Any size* (inter and intragenic) |
Duplications | Not included | Varies | Varies (intragenic) | Any size* (inter and intragenic) | Any size* (inter and intragenic) |
Inversions | Not included | Not included | Not included | Included | Included |
Mobile element insertions (MEIs) | Not included | Not included | Varies | Included | Included |
*Includes breakpoints regardless of location
