Table 2. Whole Exome Sequencing (WES).
| Control #1 | Control #2 | Patient #1 | Patient #2 | Healthy Donor* | |
|---|---|---|---|---|---|
| Total Variants | |||||
| Missense | 8,541 | 8,411 | 8,417 | 7,007 | 7,927 |
| Nonsense | 72 | 60 | 71 | 61 | 59 |
| Frameshift Insertion/Deletion | 78 | 86 | 82 | 63 | 81 |
| Synonymous | 10,738 | 10,340 | 10,764 | 8,598 | 9,444 |
| Splicing | 157 | 158 | 173 | 134 | 195 |
| Non-frameshift Insertion/Deletion | 145 | 133 | 166 | 139 | 169 |
| Total Variants | 19,731 | 19,188 | 19,673 | 16,002 | 17,875 |
DNA from BEC were used to perform WES. DNA from either healthy premature infants (Controls) or premature infants with necrotizing enterocolitis (Patients) showed comparable results indicating the adequacy of the quality and quantity of DNA obtained from buccal swabs for genomic analysis. *WES data from the BEC are comparable with those obtained from healthy blood donor (unpublished data).