Results: 4

1.
Figure 3

Figure 3. From: Prospects and pitfalls in whole genome association studies.

Increase in availability of genetic markers. The number of markers available in dbSNP is shown as a function of the dbSNP release date (all data from www.ncbi.nlm.nih.gov/SNP). The full distribution (dark grey; greater than 10 million in 2005) reflects all non-redundant SNPs in dbSNP, while the distribution in light grey shows the number of validated SNPs.

Robert W Lawrence, et al. Philos Trans R Soc Lond B Biol Sci. 2005 August 29;360(1460):1589-1595.
2.
Figure 2

Figure 2. From: Prospects and pitfalls in whole genome association studies.

Comparison of population recombination rates and pairwise LD on chromosome 20. The left column shows estimates of recombination rates between adjacent markers and the right column shows D′ coefficients for the same markers. Panel (a) plots values for Asian samples (y-axis) against Caucasians (x-axis). Panel (b) plots values for African Americans against Caucasians. Panel (c) plots values for African Americans against Asians. The samples are described in (Ke et al. 2004). The population recombination rates are described in detail in (Evans & Cardon 2005).

Robert W Lawrence, et al. Philos Trans R Soc Lond B Biol Sci. 2005 August 29;360(1460):1589-1595.
3.
Figure 1

Figure 1. From: Prospects and pitfalls in whole genome association studies.

Variability and decay in linkage disequilibrium (LD) by physical spacing on chromosome 22. Pairwise D′ coefficients are plotted against the physical separation of the markers, revealing a general trend of decay with distance, but also extensive variability. The curve overlaid on the scatterplot is from a fitted model of expected decay , where Dlow, Dhigh and t (the number of generations of decay) are estimated from the data. The raw data and this model were described by Dawson et al. (2002).

Robert W Lawrence, et al. Philos Trans R Soc Lond B Biol Sci. 2005 August 29;360(1460):1589-1595.
4.
Figure 4

Figure 4. From: Prospects and pitfalls in whole genome association studies.

Initial profile of whole genome association results: Effects of giSNPs. (a) An eQTL (gene expression level as a quantitative trait locus) association scan using only non-redundant markers (i.e. those for which r2<1.0). (b) The same results as (a) but including the redundant markers. The peaks of identical amplitude in (b) reflect the genotypic identity between the markers. From the data at hand, it is not clear which of the peaks, if any, reflect the aetiological alleles, thus emphasizing the difficulties with location inference in association studies. The expression data used in these analyses are described in Morley et al. (2004); the HapMap genotype data are from the December 2004 release (www.hapmap.org).

Robert W Lawrence, et al. Philos Trans R Soc Lond B Biol Sci. 2005 August 29;360(1460):1589-1595.

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