Table 5 The results for the completeness at data level for oncology disorders. Equation 2 was used to calculate these results. Note that the total number of unique variations does not equal the total number of variations stored in each database. This is because the same variation can be found in multiple databases (see Fig. 3)
Database | Number of variations | Completeness at the Data Level (%) |
|---|---|---|
Acute Lymphoblastic Leukemia | ||
ClinVar | 51 | 25.37% |
Ensembl | 43 | % 21.39 |
GWAS Catalog | 144 | 71.64% |
LOVD | 6 | 2.98% |
CIViC | 10 | 4.98% |
Number of unique variations | 201 | |
Acute Myeloid Leukemia | ||
ClinVar | 767 | 96.23% |
Ensembl | 514 | 64.49% |
GWAS Catalog | 2 | 0.25% |
LOVD | 14 | 1.76% |
CIViC | 8 | 1.00% |
Number of unique variations | 797 | |
Neuroblastoma | ||
ClinVar | 2,411 | 97.14% |
Ensembl | 1,729 | 69.66% |
GWAS Catalog | 62 | 2.50% |
LOVD | 8 | 0.32% |
CIViC | 0 | 0.00% |
Number of unique variations | 2,482 | |
Retinoblastoma | ||
ClinVar | 1,303 | 99.62% |
Ensembl | 730 | 55.81% |
GWAS Catalog | 0 | 0.00% |
LOVD | 0 | 0.00% |
CIViC | 0 | 0.00% |
Number of unique variations | 1,308 | |
Osteosarcoma | ||
ClinVar | 67 | 77.01% |
Ensembl | 31 | 35.63% |
GWAS Catalog | 17 | 19.54% |
LOVD | 0 | 0.00% |
CIViC | 0 | 0.00% |
Number of unique variations | 87 | |