Table 1 XCI status results for 11 females assessed for XCI skew clinical testing using the AR gene assay and our internally developed method using NGS
Sample | XCI status from the AR gene assay (X inactivation ratios) | Percentage of variants showing skew with P-value < 0.05 | XCI Status Identified by NGS |
|---|---|---|---|
Sample_1* | Highly skewed (98:2) | 73.04 | Skewed |
Sample_2* | Highly skewed (95:5) | 22.43 | Skewed |
Sample_3* | Highly skewed (91:9) | 46.32 | Skewed |
Sample_5* | Moderately skewed (89:11) | 40.85 | Skewed |
Sample_6* | Moderately skewed (87:13) | 25.93 | Skewed |
Sample_7* | Random (53:47) | 2.35 | Random |
Sample_8* | Random (75:25) | 8.24 | Random |
Sample_9* | Random (66:34) | 2.94 | Random |
Sample_11* | Random (65:35) | 2.63 | Random |
Sample_10** | Random (60:40) | 18.37 | Skewed |
Sample_14*** | Uninformative (NA) | 25.84 | Skewed |