CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation
Table 1
Demographic distribution of reported cases.
Clinical ES training
Clinical ES test
DDD
458
197
12832
Diagnostic variant count (%)
0
315 (68.8)
137 (69.5)
9217 (71.8)
1
141 (30.8)
54 (27.4)
3551 (27.7)
2
2 (0.4)
6 (3.1)
63 (0.5)
3
—
—
1 (<0.1)
Diagnostic = true (%)
143 (31.2)
60 (30.5)
3615 (28.2)
Trio status (%)
Singleton
31 (6.8)
18 (9.1)
3297 (25.7)
Duo
108 (23.6)
27 (13.7)
82 (0.6)
Trio
319 (69.6)
152 (77.2)
9453 (73.7)
Years from sign out (mean (SD))
4.52 (1.05)
4.41 (1.02)
—
Sign-out age (mean (SD))
7.66 (7.00)
6.63 (6.15)
—
Clinical notes = available (%)
400 (87.3)
186 (94.4)
—
Sex = M (%)
257 (56.1)
111 (56.3)
7843 (61.1)
Race (%)
Asian
15 (3.3)
8 (4.1)
—
Black or African American
28 (6.1)
15 (7.6)
—
Multiple races
21 (4.6)
8 (4.1)
—
Unknown
33 (7.2)
13 (6.6)
—
White
361 (78.8)
153 (77.6)
—
Ethnicity (%)
Hispanic or Latino
16 (3.5)
10 (5.1)
—
Not Hispanic or Latino
420 (91.7)
181 (91.9)
—
Unknown
22 (4.8)
8 (4.0)
—
The clinical ES training and test partitions were stratified by diagnostic variant presence and race. DDD demographic distribution is also provided where applicable, and not all demographic data were provided in the EGAS00001000775 download.
