Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Private variants of pedigree II called with SAMtools and GATK
|
| ||||||||
| Individual | 100 | 101 | 102 | Common in three affected | ||||
| SAMtools | GATK | SAMtools | GATK | SAMtools | GATK | SAM tools | GATK | |
| Nonsynonymous SNV | 35 | 34 | 35 | 51 | 42 | 32 | 5 | 5 |
| Frame shift | 84 | 1 | 84 | 1 | 84 | 0 | 65 | 0 |
| Indel | 255 | 3 | 255 | 5 | 264 | 5 | 138 | 0 |
| Stopgain | 5 | 0 | 5 | 0 | 5 | 0 | 2 | 0 |
| Stoploss | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 |
| 5´UTR | 178 | 10 | 178 | 4 | 213 | 7 | 94 | 0 |
| 3´UTR | 263 | 8 | 263 | 12 | 276 | 4 | 147 | 2 |
| Exonic | 329 | 37 | 329 | 60 | 347 | 37 | 140 | 5 |
| Exonic, splicing | 47 | 1 | 47 | 0 | 47 | 1 | 7 | 0 |
