Mapping the new frontier: complex genetic disorders
J. Clin. Invest. Richard Mayeux, et al. 115:1404 doi:10.1172/JCI25421 [
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Figure 1Progression of gene mapping in genetic epidemiological studies. (i) Population from which the complex genetic disorder arose. (ii) One of several families included in the genome-wide scan. However, more recently, genome-wide association studies of unrelated patients and controls have been advocated. (iii) Genome-wide scan using microsatellite DNA markers or SNPs. (iv) Fine mapping using a dense collection of SNPs in a region that segregates with disease. (v) Variant allele detection using sequencing. (vi) Functional assessment of the protein product. (vii) Determination of population attributable risk.
