Table 1. Feature grid of tools for human genome annotation and analysis.
Features | Mendel,MD | GEMINI | Ingenuity Variant Analysis | VarSeq | Sequence Miner | seqr | VCFMiner | BiERapp | Browse-VCF |
---|---|---|---|---|---|---|---|---|---|
Open Source | ✓ | ✓ | ✘ | ✘ | ✘ | ✓ | ✓ | ✓ | ✓ |
Easy to use | ✓ | ✘ | ✓ | ✓ | ✘ | Not public | ✘ | ✘ | ✘ |
Web Interface | ✓ | Partially | ✓ | ✓ | ✓ | Not public | ✓ | ✓ | ✓ |
Public Server Available |
✓ | ✘ | ✘ | ✘ | ✘ | ✘ | ✘ | ✓ | ✘ |
Example Datasets with Mendelian Disorders | ✓ | ✘ | ✘ | ✘ | ✘ | Not public | ✘ | ✘ | ✘ |
Multi Sample Comparison | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Annotation | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |
Filtering | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ |