HomozgosityMapper pedigree Login


With permission of the authors (thank you very much!), we provide examples of successful mappings with AutozygosityMapper using Affymetrix 10K, 50K, or 250K arrays in which the disease gene (or, in one case, a disease-linked region) could be identified. In some of them, our software (HomozygosityMapper) was employed before or parallel to conventional linkage, in others retrospectively as a proof of principle.
Please note that for gene identification usually further investigations (such as genotyping of microsatellite markers) were performed. The additional information is not included here so the published regions may have eventually become much smaller than in the original analysis where only SNP genotypes had been at hand.

Please note that AutozygosityMapper is optimised for VCF files - you should use HomozygosityMapper when working with SNP array data!

We encourage every researcher who uses this website to map a gene to make her or his data public. If you write an e-mail, we will list your publication here and provide a direct link to the genotypes and results.

The title always links directly to the mapping, the journal to the PubMed abstract.