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
The title always links directly to the mapping, the journal to the PubMed abstract.
RAB23 mutations in Carpenter
syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and
Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO.
Am J Hum Genet. 2007 Jun;80(6):1162-70.
50K data. Disease gene: RAB23, chromosome 6, 57.2 Mbp
Note the heterozygous genotypes in the middle of the target interval. AutozygosityMapper ignores such obvious genotyping errors.
Mutations in the tight-junction
gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S.
Am J Hum Genet. 2006 Nov;79(5):949-57.
50K data. Disease gene: CLDN19, chromosome 1, 43.0 Mbp