Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

Hum Mutat. 2006 Oct;27(10):1041-6. doi: 10.1002/humu.20383.


Autozygosity mapping of recessive disorders using small numbers of highly inbred families is a powerful tool for disease gene identification. With the advent of cheap rapid methods for whole-genome SNP genotyping, data analysis, rather than laboratory work, has become rate-limiting for this approach. Here, we describe AutoSNPa, a computer program used for handling and visually presenting large amounts of SNP data, in such a way as to facilitate the rapid identification and subsequent scrutiny of autozygous regions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Chromosome Mapping
  • Consanguinity*
  • Databases, Nucleic Acid
  • Female
  • Genome, Human / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • Sequence Analysis, DNA / methods*
  • Software*