We have created a map-based tool that annotates the genes and chromosome regions with clinical relevance when either duplicated or deleted. As the clinical effects are due to abnormal gene dosage, we are referring to this tool as a gene dosage maps.

These gene dosage maps have been created using sets of genome annotation tracks on the UC Santa Cruz Genome Browser. These tracks display the genes and phenotype regions based on their chromosomal location with links to information about their potential role in generating an abnormal phenotype. We have created two types of tracks.

  • Gene Dosage Tracks: Each gene is depicted by location and classified with regard to the likelihood of being dosage sensitive. There is 1 track for the effects of hemizygosity (gene deletion) and one for suprazygosity (gene duplication).
  • Phenotype Track: This track indicates the locations of the regions for specific phenotypic features that are linked to a region of chromosome 18 but for which the causative gene has not yet been identified.
  • Learn how to use a Gene Dosage Map and about the clinical utility of a molecular diagnosis. For those interested in only those genes and regions currently classified as having clinical significance, we have created a map that includes only those data:

If you use information from  our Gene Dosage Maps in a publication, please cite us:Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C, Hale DE. (2018) Chromosome 18 Gene Dosage Map 2.0  Hum Genet 137(11):961-970. doi:10.1007/s00439-018-1960-6.