| BWS | Beckwith–Wiedemann syndrome |
| CNV | copy number variation |
| DMR | differentially methylated region |
| GOM | gain of methylation |
| IC | imprinting center |
| IGN | imprinted genes network |
| LOM | loss of methylation |
| MLID | multilocus imprinting disturbances |
| MLPA | multiplex ligation-dependent probe amplification |
| MS | methylation-specific |
| ncRNA | non-coding RNA |
| NGS | next generation sequencing |
| PHP1b | Pseudohypoparathyreoidism 1 b |
| SNV | single nucleotide variant |
| SRS | Silver–Russell syndrome |
| TF | transcription factor |
| TGS | third generation sequencing |
| TNDM | transient neonatal diabetes |
| UPD | Uniparental Disomy |
| WES | whole exome sequencing |
| WGS | whole genome sequencing |