| NBPF | Neuroblastoma breakpoint family |
| HLS | Human lineage specific |
| PSIS | Pituitary stalk interruption syndrome |
| CNVs | Copy number variations |
| SDS | Social diagnostic score |
| CDS | Communication diagnostic score |
| NIID | Neuronal intranuclear inclusion disease |
| HAL | Hepatoid adenocarcinoma of the lung |
| LUSC | Lung squamous cell carcinoma |
| MPLC | Multiple primary lung cancer |
| LNM | Lymph node metastasis |
| AML | Acute myeloid leukemia |
| PDAC | Pancreatic ductal adenocarcinoma |
| TMB | Tumour mutational burden |
| SCC | Small-cell carcinoma |
| ADC | Adenocarcinoma |
| GBM | Glioblastoma multiforme |
| IERs | Intragenic exon rearrangements |
| CRC | Colorectal cancer |
| ACC | Adrenocortical carcinoma |
| LUAD | Lung adenocarcinoma |
| BRCA | Breast-invasive carcinoma |
| T2DM | Type 2 diabetes mellitus |
| T1DM | Type 1 diabetes mellitus |
| WES | Whole-exome sequencing |
| TAPVC | Total anomalous pulmonary venous connection |
| LINE | Long interspersed nuclear element |
| PCR | Polymerase chain reaction |