Table 5. Variants identified in a cohort of 216 disease cases as detected by ONDRISeq.
| Disease ID | Individuals with variants | ONDRISeq variants | Variants in disease gene as diagnosed | Variants in other ONDRISeq disease genes | Variants in disease databases | Variants not found in disease databases |
|---|---|---|---|---|---|---|
| Total (n=216) | 156 (72.2%) | 266 | 107 (40.2%) | 159 (59.8%) | 62 (23.3%) | 204 (76.7%) |
| AD/MCI (n=40) | 33 (82.5%) | 55 | 19 (34.5%) | 36 (65.5%) | 12 (21.8%) | 43 (78.2%) |
| ALS (n=22) | 16 (72.7%) | 28 | 17 (60.7%) | 11 (39.2%) | 10 (35.7%) | 18 (64.3%) |
| FTD (n=21) | 17 (81.0%) | 27 | 12 (44.4%) | 15 (55.6%) | 3 (11.1%) | 24 (88.9%) |
| PD (n=56) | 40 (71.4%) | 63 | 31 (49.2%) | 32 (50.8%) | 11 (17.5%) | 52 (82.6%) |
| VCI (n=77) | 50 (64.9%) | 93 | 28 (30.1%) | 65 (69.9%) | 26 (28.0%) | 67 (72.0%) |
Abbreviations: AD/MCI, Alzheimer’s disease/mild cognitive impairment; ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia; PD, Parkinson’s disease; VCI, vascular cognitive impairment.
‘ONDRISeq variants refers to the total number of variants identified in each disease cohort or the total number of neurodegenerative disease cases. ‘Variants in disease gene as diagnosed’ refers to variants in genes known to cause the disease the patient is diagnosed with. ‘Variants in other ONDRI disease genes’ refers to variants identified in genes that are not typically associated with the disease the patient is diagnosed with as categorised on the ONDRISeq gene panel. ‘Variants in disease databases’ were classified as variants present within HGMD or ClinVar. Similarly, ‘Variants not found in disease databases’ were classified as variants absent from HGMD or ClinVar. Values in parentheses in columns 4-7 were calculated by dividing the values by the total ONDRISeq variants listed in column 3. The variants in Table 4 and here are the same but tabulated differently.