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Keywords:

  • dominant gene mapping;
  • SNP;
  • microarray genotyping;
  • bioinformatics

Abstract

With the advent of cheap rapid methods for whole-genome SNP genotyping and the completion of the Human Genome Project, mapping disease loci has become primarily a bioinformatic rather than a laboratory problem. Here, we describe DominantMapper, a computer program that implements a rule-based analysis algorithm for the detection of dominant disease loci in either a small number of nuclear families or a single large nuclear family. To demonstrate its utility, we present the successful analysis of two pedigrees in which the affected individuals carry either APC or TSPAN12 mutations. 32:1359–1366, 2011. ©2011 Wiley Periodicals, Inc.