Table 2.

Parameter estimates obtained using the NIEHS data (6), 1000G exon and low-coverage data, and 1000G exon pilot data only (this work)

NIEHSLow-coverage + exonsExons
ParameterEstimate95% CIEstimate95% CIEstimate95% CI
NA7,3004,400–10,1007,3106,984–7,7397,3103,647–9,208
NAF12,30011,500–13,90014,47413,419–16,18415,38814,240–17,542
NB2,1001,400–2,9001,8611,453–2,4942,758896–3,450
NEUO1,000500–1,9001,032677–1,2901,620991–2,759
rEU (%)0.400.15–0.660.380.28–0.590.270.17–0.39
NAS0510310–910554376–813821616–1,226
rAS (%)0.550.23–0.880.480.30–0.750.310.18–0.42
mAF B (×10−5)2515–341512–19205.5–29.6
mAF EU (×10−5)3.02.0–6.02.52.1–3.11.71.0–2.8
mAF AS (×10−5)1.90.3–10.40.780.4–1.20.580.23–1.24
mEU AS (×10−5)9.62.3–17.43.111.8–3.95.94.1–8.2
TAF (kya)220100–510148114–183316155–545
TB (kya)14040–2705145–699843–210
TEU − AS (kya)21.217.2–26.52321–272823–38
  • The 95% confidence intervals (CIs) in this work are obtained by bootstrap over coding regions. The equality of the maximum likelihood values for NA in the corrected low-coverage + exons data is a consequence of a normalization of the effective sequenced length (details in Methods). The resulting demographic model is illustrated in Fig. 4.