Table 2.
Parameter estimates obtained using the NIEHS data (6), 1000G exon and low-coverage data, and 1000G exon pilot data only (this work)
| NIEHS | Low-coverage + exons | Exons | ||||
| Parameter | Estimate | 95% CI | Estimate | 95% CI | Estimate | 95% CI |
| NA | 7,300 | 4,400–10,100 | 7,310 | 6,984–7,739 | 7,310 | 3,647–9,208 |
| NAF | 12,300 | 11,500–13,900 | 14,474 | 13,419–16,184 | 15,388 | 14,240–17,542 |
| NB | 2,100 | 1,400–2,900 | 1,861 | 1,453–2,494 | 2,758 | 896–3,450 |
| NEUO | 1,000 | 500–1,900 | 1,032 | 677–1,290 | 1,620 | 991–2,759 |
| rEU (%) | 0.40 | 0.15–0.66 | 0.38 | 0.28–0.59 | 0.27 | 0.17–0.39 |
| NAS0 | 510 | 310–910 | 554 | 376–813 | 821 | 616–1,226 |
| rAS (%) | 0.55 | 0.23–0.88 | 0.48 | 0.30–0.75 | 0.31 | 0.18–0.42 |
| mAF−B (×10−5) | 25 | 15–34 | 15 | 12–19 | 20 | 5.5–29.6 |
| mAF−EU (×10−5) | 3.0 | 2.0–6.0 | 2.5 | 2.1–3.1 | 1.7 | 1.0–2.8 |
| mAF−AS (×10−5) | 1.9 | 0.3–10.4 | 0.78 | 0.4–1.2 | 0.58 | 0.23–1.24 |
| mEU−AS (×10−5) | 9.6 | 2.3–17.4 | 3.11 | 1.8–3.9 | 5.9 | 4.1–8.2 |
| TAF (kya) | 220 | 100–510 | 148 | 114–183 | 316 | 155–545 |
| TB (kya) | 140 | 40–270 | 51 | 45–69 | 98 | 43–210 |
| TEU − AS (kya) | 21.2 | 17.2–26.5 | 23 | 21–27 | 28 | 23–38 |
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.