Characterization of single-nucleotide polymorphisms in coding regions of human genes

  title={Characterization of single-nucleotide polymorphisms in coding regions of human genes},
  author={M. Cargill and D. Altshuler and J. Ireland and P. Sklar and K. Ardlie and N. Patil and C. R. Lane and Esther P. Lim and Nilesh Kalyanaraman and J. Nemesh and L. Ziaugra and L. Friedland and A. Rolfe and J. Warrington and R. Lipshutz and G. Daley and E. Lander},
  journal={Nature Genetics},
A major goal in human genetics is to understand the role of common genetic variants in susceptibility to common diseases. This will require characterizing the nature of gene variation in human populations, assembling an extensive catalogue of single-nucleotide polymorphisms (SNPs) in candidate genes and performing association studies for particular diseases. At present, our knowledge of human gene variation remains rudimentary. Here we describe a systematic survey of SNPs in the coding regions… Expand
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