HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

Nucleic Acids Res. 2012 Jul;40(Web Server issue):W516-20. doi: 10.1093/nar/gks487. Epub 2012 Jun 4.


Homozygosity mapping is a common method to map recessive traits in consanguineous families. To facilitate these analyses, we have developed HomozygosityMapper, a web-based approach to homozygosity mapping. HomozygosityMapper allows researchers to directly upload the genotype files produced by the major genotyping platforms as well as deep sequencing data. It detects stretches of homozygosity shared by the affected individuals and displays them graphically. Users can interactively inspect the underlying genotypes, manually refine these regions and eventually submit them to our candidate gene search engine GeneDistiller to identify the most promising candidate genes. Here, we present the new version of HomozygosityMapper. The most striking new feature is the support of Next Generation Sequencing *.vcf files as input. Upon users' requests, we have implemented the analysis of common experimental rodents as well as of important farm animals. Furthermore, we have extended the options for single families and loss of heterozygosity studies. Another new feature is the export of *.bed files for targeted enrichment of the potential disease regions for deep sequencing strategies. HomozygosityMapper also generates files for conventional linkage analyses which are already restricted to the possible disease regions, hence superseding CPU-intensive genome-wide analyses. HomozygosityMapper is freely available at http://www.homozygositymapper.org/.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cattle
  • Chromosome Mapping*
  • Consanguinity
  • Disease / genetics
  • Dogs
  • Genetic Heterogeneity
  • Genetic Linkage
  • Genotype
  • High-Throughput Nucleotide Sequencing*
  • Homozygote*
  • Humans
  • Internet
  • Loss of Heterozygosity
  • Mice
  • Rats
  • Sequence Analysis, DNA
  • Software*