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. 2010 Apr;7(4):250-1.
doi: 10.1038/nmeth0410-250.

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

Gregory M Cooper, David L Goode, Sarah B Ng, Arend Sidow, Michael J Bamshad, Jay Shendure, Deborah A Nickerson

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

Gregory M Cooper et al. Nat Methods. 2010 Apr.
No abstract available

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Figures

Figure 1
Figure 1
RS scores inversely correlate with DAF of single-nucleotide variants (n=48,750) in 8 HapMap exomes. The average DAF (Y-axis) is plotted for all variants at a site within a given RS bin (X-axis). Error bars show 1 standard error unit.
Figure 2
Figure 2
Constraint scores enrich for disease-causing genes. (a). Number of genes (Y-axis, log-scale) in which at least the given number of FSS individuals (X-axis) has a rare variant that is functionally defined (white), or with increasing RS scores (light gray to black). The total number of candidate genes defined at RS > 0 and the rank of MYH3 among those genes are indicated below the graph. (b). Similar to panel A, expect for Miller syndrome, caused by mutations in DHODH.
See this image and copyright information in PMC

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