Table 4. Diagnostic yield of ONDRISeq in a cohort of 216 disease cases.
| Disease ID | Individuals without any variants | Individuals with variants | Individuals with 1 variants | Individuals with 2 variants | Individuals with ⩾3 variants |
|---|---|---|---|---|---|
| Total (n=216) | 60 (27.8%) | 156 (72.2%) | 76 (48.7%) | 57 (36.5%) | 23 (14.8%) |
| AD/MCI (n=40) | 7 (17.5%) | 33 (82.5%) | 18 (54.5%) | 10 (30.3%) | 5 (15.2%) |
| ALS (n=22) | 6 (27.3%) | 16 (72.7%) | 6 (37.5%) | 8 (50.0%) | 2 (12.5%) |
| FTD (n=21) | 4 (19.0%) | 17 (81.0%) | 9 (52.9%) | 7 (41.2%) | 1 (5.9%) |
| PD (n=56) | 16 (28.6%) | 40 (71.4%) | 22 (55.0%) | 13 (32.5%) | 5 (12.5%) |
| VCI (n=77) | 27 (35.1%) | 50 (64.9%) | 21 (42.0%) | 19 (38.0%) | 10 (20%) |
Abbreviations: AD/MCI, Alzheimer’s disease/mild cognitive impairment; ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia; PD, parkinson’s disease; VCI, vascular cognitive impairment.
Variant criteria were based on non-synonymous, rare variants (<1% in ExAC). The variants here and in Table 5 are the same but tabulated differently.