From: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Panel | Input | Functional sites | Public Pop. DBs | SGP Pop. DB | Quality | Zygosity |
---|---|---|---|---|---|---|
Cardiovascular | 746 | 338 | 76 | 26 | 9 | 2 |
Deafness | 828 | 257 | 63 | 50 | 17 | 6 |
Dermatology | 1113 | 271 | 71 | 41 | 17 | 5 |
Dysmorphology/Dysplasia | 1529 | 369 | 80 | 43 | 15 | 2 |
Endocrinology | 1129 | 326 | 61 | 42 | 19 | 5 |
Gastroenterology | 362 | 190 | 60 | 20 | 6 | 1 |
Hematology | 1474 | 324 | 79 | 39 | 18 | 3 |
Inborn Errors of Metabolism | 1955 | 571 | 94 | 54 | 24 | 4 |
Neurology | 2885 | 718 | 158 | 87 | 29 | 4 |
PID | 633 | 309 | 111 | 22 | 6 | 1 |
Pulmonology | 723 | 230 | 74 | 39 | 21 | 3 |
Renal | 507 | 132 | 35 | 21 | 7 | 1 |
Vision | 906 | 341 | 75 | 51 | 17 | 3 |
Total (averages) | 1138 | 337 | 80 | 41 | 16 | 3 |