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Chunk #11 — Abundance of rare variation explained by human demographic history

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
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The EA population growth, previously estimated at 0.38% per generation, is now modeled at the first step as 0.307% (SD of ±0.003%), followed by explosive growth of 1.95% (SD ±0.03%) over the past 5115 years. The growth in the AA sample during this same period is estimated to be 1.66% (SD ±0.03%). The estimated standard deviations (18) are quite small, and, for data sets of this scale, it is likely that other sources of uncertainty (e.g., mutation rate or model specification) play a more important role than finite genome fluctuations. The final population sizes in this model are lower than current census sizes, and we speculate that larger sample sizes will be necessary to fully capture the signature recent growth-rate expansion imparted on patterns of DNA sequence variation.