From: A scoping review and proposed workflow for multi-omic rare disease research
Study Characteristic | Number (n = 66) | Percentage |
---|---|---|
Rare disease, cancer or phenotype | ||
 Acute myeloid leukaemia | 1 | 1.52% |
 Adrenocortical carcinoma | 5 | 7.58% |
 Autoinflammatory disorder | 1 | 1.52% |
 Brain cancer | 4 | 6.06% |
 Cancer predisposition disorder | 2 | 3.03% |
 Cardiovascular disorder | 1 | 1.52% |
 Cholangiocarcinoma | 1 | 1.52% |
 Chromosomal disorder | 1 | 1.52% |
 Fibrolamellar hepatocellular carcinoma | 1 | 1.52% |
 Gastric cancer | 2 | 3.03% |
 Gynaecological cancer | 4 | 6.06% |
 Immune Disorder | 3 | 4.55% |
 Malignant pleural mesothelioma | 1 | 1.52% |
 Metabolic disorder | 1 | 1.52% |
 Mixed rare cancers (TCGA) | 2 | 3.03% |
 Multi-system developmental disorder | 3 | 4.55% |
 Muscular disorder | 1 | 1.52% |
 Neurological disorder | 7 | 10.61% |
 Neurometabolic disorder | 2 | 3.03% |
 Neuromuscular disorder | 1 | 1.52% |
 Pheochromocytomas and paragangliomas | 1 | 1.52% |
 Phyllodes breast tumours | 1 | 1.52% |
 Primary testicular germ cell tumours | 1 | 1.52% |
 Primary urethral clear-cell adenocarcinoma | 1 | 1.52% |
 Prostate cancer | 2 | 3.03% |
 Pseudomyxoma peritonei | 1 | 1.52% |
 Rare renal cancer | 2 | 3.03% |
 Renal disorder | 1 | 1.52% |
 Salivary duct carcinoma | 1 | 1.52% |
 Sarcoma | 5 | 7.58% |
 Sezary tumour | 1 | 1.52% |
 Thymic epithelial cancer | 2 | 3.03% |
 Thyroid cancer | 2 | 3.03% |
 Uveal Melanoma | 1 | 1.52% |