Haplotype-based profiling of subtle allelic imbalance with SNP arrays

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Figure 1.
Figure 1.

Quantification of phase concordance. We illustrate the determination of local switch consistency using a hypothetical data set from 10 heterozygous loci. The plotted circles represent the BAFs at each marker. The shaded haplotypes, h(g) and Graphic, represent the germline haplotypes, obtained by statistical estimation using the called genotypes. We call each allele in haplotype h(b) by comparing each BAF to a threshold (depicted as a dotted line). Then we assess local switch consistency, indicated in vector x, between the two haplotype reconstructions at each pair of consecutive heterozygous markers by looking for a match between h(b) and either h(g) or Graphic.

This Article

  1. Genome Res. 23: 152-158

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