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 |