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

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Figure 3.
Figure 3.

(A) Ability of three classifiers to identify known heterozygous sites. False call rate (FCR) (the fraction of called heterozygous SNPs that are known to be homozygous) is shown as a function of sensitivity (the fraction of known heterozygous sites called by each classifier). Three classifiers are compared: (1) GigaBayes; (2) ProbHD local-feature classifier, which considers all local features that could be extracted from the 454 GS-FLX generated MSA and quality scores file; and (3) ProbHD full classifier, which considers both local- and amplicon-level features from alignments generated by hAlign. (B) Estimated sensitivity and FCR for calling a site heterozygous, corrected for HapMap errors. (Dashed line) Assumes a HapMap error rate at the upper end of the 95% confidence interval; (dotted line) lower end; (solid line) no HapMap errors.

This Article

  1. Genome Res. 19: 1542-1552

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