Table 5 Validation of the presence of the truth variants in the GeT-RM samples with their locations specified as GRCh37 coordinates used in our variant calling workflow
GeT-RM sample ID | Chromosome: position | Truth variant | Truth variant detected |
|---|---|---|---|
NA04408 | 15: 91,310,152 | TATC → T | Yes |
15: 91,310,156 | T → TA | Yes | |
15: 91,310,158 | A → ATTC | Yes | |
NA14090 | 17:41,276,044 | ACT → A | Yes |
NA14170 | 13:32,914,437 | GT → G | Yes |
NA16658 | 10:43,609,103 | G → T | Yes |