Significance testing for direct identity-by-descent mapping

Ann Hum Genet. 1999 Sep;63(Pt 5):441-54. doi: 10.1046/j.1469-1809.1999.6350441.x.


Direct identity-by-descent mapping is a technique for narrowing down the location of the gene or genes responsible for a given genetic disease to small segments of the genome. The technique involves DNA comparisons between pairs of affected individuals. The data generated are in the form of matching segments of the genome, representing regions likely to be identical-by-descent (IBD). Regions in the genome over which there are significantly more segments aligned than is expected by chance are taken as candidate regions for the disease gene or genes. Due to the complex geometric nature of the data, significance testing involves certain mathematical difficulties. We present here a new method for measuring this significance. This method introduces a novel statistic and is appropriate whether or not the relationships between the paired individuals are known. We give examples that we have calculated by implementing this method, including an application to real data.

MeSH terms

  • Chromosome Mapping / methods*
  • Genome*
  • Models, Statistical*
  • Oligonucleotide Array Sequence Analysis
  • Sequence Analysis, DNA