Single nucleotide polymorphisms as tools in human genetics

Hum Mol Genet. 2000 Oct;9(16):2403-8. doi: 10.1093/hmg/9.16.2403.

Abstract

The development of detailed single nucleotide polymorphism (SNP) maps of the human genome coupled with high-throughput genotyping technologies may allow us to unravel complex genetic traits, such as multifactorial disease or drug response, over the next few years. Here we describe the current efforts to identify and characterize the large numbers of SNPs required and discuss the practicalities of association studies for the identification of genes involved in complex traits.

Publication types

  • Review

MeSH terms

  • Genetics, Medical
  • Genome, Human
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide*