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. Author manuscript; available in PMC: 2013 Feb 1.
Published in final edited form as: Transl Res. 2011 Aug 31;159(2):64–79. doi: 10.1016/j.trsl.2011.08.001

TABLE 2.

Approaches to Genetic Studies of Complex Phenotype

  • Candidate approach

    • Candidate gene(s)

      • Biological plausibility

      • Chromosomal position mapped through linkage or GWAS

    • Candidate SNP(s)

      • Biological function

      • Locus position mapped through linkage or GWAS

      • Linkage disequilibrium structure

    • Novel and known SNPs

      • Direct sequencing of the candidate gene(s)

  • Unbiased approach

    • Genome-wide association studies (GWAS)

    • Quantitative trait loci analysis

    • Targeted subgenomic sequencing

    • Whole exome sequencing

    • Whole genome sequencing

    • Next Generation Sequencing in combination with linkage in families