A probabilistic approach for SNP discovery in high-throughput human resequencing data

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Table 2.

Number of sites predicted in each bin of heterozygosity probability and each HapMap genotype

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Table 2.

  • aThe probabilities indicate our classifier's confidence that a site is heterozygous. The total number of sites in each category is shown, with areas of disagreement between HapMap and our classifier highlighted in boldface. The numbers in parentheses indicate the number of sites genotyped by an independent method: The first number is the number of sites for which the second technology agreed with our classifier (and HapMap is in error), and the second number is the total number of successfully re-genotyped sites.

  • bEach site is categorized as either homozygous or heterozygous in HapMap, and homozygous sites are separated into monomorphic (sites for which no variation was found in the entire HapMap population) and polymorphic sites.

This Article

  1. Published in Advance July 15, 2009, doi: 10.1101/gr.092072.109 Genome Res. 19: 1542-1552

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