DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Hum Mutat. 2011 Dec;32(12):1359-66. doi: 10.1002/humu.21597. Epub 2011 Sep 19.

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.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adult
  • Algorithms
  • Child
  • Chromosome Mapping / methods*
  • Computational Biology / methods
  • Female
  • Genes, APC
  • Genes, Dominant / genetics*
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Nuclear Family*
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • Software*
  • Tetraspanins / genetics
  • Time Factors

Substances

  • TSPAN12 protein, human
  • Tetraspanins