TABLE 1.
Overall | BioFIND | HBS | PDBP | PPMI | |
---|---|---|---|---|---|
Total, n | 3941 | 172 | 867 | 1469 | 1433 |
Sex and age | |||||
Female, n (%) | 1725 (43.8) | 71 (41.3) | 372 (42.9) | 640 (43.6) | 642 (44.8) |
Age at baseline (years), mean (SD) | 63.5 (10.7) | 67.1 (6.9) | 66.1 (10.1) | 64.0 (10.0) | 61.1 (11.7) |
Self‐reported race | |||||
White, n (%) | 3726 (94.6) | 161 (93.6) | 844 (97.3) | 1397 (95.1) | 1324 (92.5) |
Mixed ancestry, n (%) | 65 (1.6) | 2 (1.2) | 2 (0.2) | 6 (0.4) | 55 (3.8) |
Black or African American, n (%) | 63 (1.6) | 3 (1.7) | 10 (1.2) | 32 (2.2) | 18 (1.3) |
Asian, n (%) | 34 (0.9) | 1 (0.6) | 7 (0.8) | 16 (1.1) | 10 (0.7) |
Study arms | |||||
Parkinson's disease, n (%) | 2005 (51.1) | 99 (57.6) | 640 (73.8) | 858 (58.9) | 408 (28.5) |
Healthy control, n (%) | 963 (24.5) | 73 (42.4) | 227 (26.2) | 470 (32.3) | 193 (13.5) |
Genetic cohort PD, n (%) | 179 (4.6) | 179 (12.5) | |||
Genetic cohort unaffected, n (%) | 222 (5.7) | 222 (15.5) | |||
Genetic registry PD, n (%) | 125 (3.2) | 125 (8.7) | |||
Genetic registry unaffected, n (%) | 179 (4.6) | 179 (12.5) | |||
Prodromal, n (%) | 64 (1.6) | 64 (4.5) | |||
SWEDD, n (%) | 62 (1.6) | 62 (4.3) | |||
Disease control, n (%) | 127 (3.2) | 127 (8.7) | |||
Variant metrics | |||||
MEAN_COVERAGE, median (Q1, Q3) | 33.9 (31.2, 36.2) | 35.0 (34.1, 35.7) | 33.4 (30.7, 36.3) | 33.3 (30.8, 36.3) | 34.2 (31.8, 36.4) |
MEDIAN_COVERAGE, median (Q1, Q3) | 34.0 (32.0, 37.0) | 35.0 (35.0, 36.0) | 34.0 (31.0, 37.0) | 34.0 (31.0, 37.0) | 35.0 (32.0, 37.0) |
READS/K, median (Q1, Q3) | 3519 (3254, 3760) | 3629 (3552, 3690) | 3489 (3198, 3765) | 3446 (3194, 3742) | 3565 (3322, 3789) |
AVG_DP, median (Q1, Q3) | 35.2 (32.6, 37.6) | 36.3 (35.5, 36.9) | 34.9 (32.0, 37.7) | 34.5 (31.9, 37.4) | 35.7 (33.2, 37.9) |
FREEMIX, median (Q1, Q3) | 0.0 (0.0, 0.0) | 0.0 (0.0, 0.0) | 0.0 (0.0, 0.0) | 0.0 (0.0, 0.0) | 0.0 (0.0, 0.0) |
AVG_DP, average depth; PD, Parkinson's disease; SWEDD, scan without evidence of dopamine deficit.