Human genome sequence variation and the influence of gene history, mutation and recombination

@article{Reich2002HumanGS,
  title={Human genome sequence variation and the influence of gene history, mutation and recombination},
  author={David E. Reich and Stephen F. Schaffner and Mark J. Daly and Gilean McVean and James C. Mullikin and John M. Higgins and Daniel J Richter and Eric S. Lander and David Altshuler},
  journal={Nature Genetics},
  year={2002},
  volume={32},
  pages={135-142}
}
Variation in the human genome sequence is key to understanding susceptibility to disease in modern populations and the history of ancestral populations. Unlocking this information requires knowledge of the patterns and underlying causes of human sequence diversity. By applying a new population-genetic framework to two genome-wide polymorphism surveys, we find that the human genome contains sizeable regions (stretching over tens of thousands of base pairs) that have intrinsically high and low… CONTINUE READING
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