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

@article{Cargill1999CharacterizationOS,
  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 Alex Rolfe and J. Warrington and R. Lipshutz and G. Daley and E. Lander},
  journal={Nature Genetics},
  year={1999},
  volume={22},
  pages={231-238}
}
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
660 Citations

Paper Mentions

News Article
Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes
  • 21
  • PDF
Prediction of deleterious human alleles.
  • 1,061
  • PDF
Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes
  • 53
Identification of functional SNPs in the 5-prime flanking sequences of human genes
  • 58
  • PDF
Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms
  • 76
  • PDF
Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences
  • 141
  • PDF
Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome.
  • 58
  • PDF
Large-scale identification and characterization of genetic variants in asthma candidate genes
  • 1
  • Highly Influenced
...
1
2
3
4
5
...