Table 1.

Demographic Characteristics of the Probands (Including Inferred Ancestry) in the 100,000 Genomes Project Pilot Study.^*

Characteristic	All Probands (N = 2183)	Pediatric Probands (N = 571)	Adult Probands (N = 1612)
Sex — no. (%)
Male	1138 (52)	339 (59)	799 (50)
Female	1045 (48)	232 (41)	813 (50)
Total	2183 (100)	571 (100)	1612 (100)
Median age at recruitment (IQR) — yr	35 (18–54)	9 (5–14)	45 (31–60)
Inferred ancestry — no. (%) [% consanguinity suggested in record]†
African	50 (2) [0]	25 (4) [0]	25 (2) [0]
American with mixed ancestry	26 (1) [23]	12 (2) [25]	14 (1) [21]
East Asian	8 (<1) [0]	2 (<1) [0]	6 (<1) [0]
European	1931 (88) [<1]	438 (77) [<1]	1493 (93) [<1]
South Asian	163 (7) [36]	93 (16) [43]	70 (4) [25]
Not determined	5 (<1) [0]	1 (<1) [0]	4 (<1) [0]
Total	2183 (100) [3]	571 (26) [8]	1612 (74) [2]

^*Pediatric probands were younger than 18 years of age at recruitment, and adult probands were 18 years of age or older at recruitment. IQR denotes interquartile range.

^†Ancestry was inferred on the basis of a random forest model trained on principal component analysis of the five super populations described for the 1000 Genomes Project.