Mapping rare and common causal alleles for complex human diseases

Cell. 2011 Sep 30;147(1):57-69. doi: 10.1016/j.cell.2011.09.011.


Advances in genotyping and sequencing technologies have revolutionized the genetics of complex disease by locating rare and common variants that influence an individual's risk for diseases, such as diabetes, cancers, and psychiatric disorders. However, to capitalize on these data for prevention and therapies requires the identification of causal alleles and a mechanistic understanding for how these variants contribute to the disease. After discussing the strategies currently used to map variants for complex diseases, this Primer explores how variants may be prioritized for follow-up functional studies and the challenges and approaches for assessing the contributions of rare and common variants to disease phenotypes.

MeSH terms

  • Chromatin Assembly and Disassembly
  • Chromosome Mapping*
  • Disease / genetics*
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genetics, Population
  • Genome-Wide Association Study
  • Humans
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci