We created map-based tools for querying the effects of chromosome 18 deletions or duplications. These maps annotate the individual genes and regions of the chromosome with clinical relevance when either duplicated or deleted. As the clinical effects are due to abnormal gene dosage, we are referring to these tools as gene dosage maps. These gene dosage maps have been created as sets of genome annotation “tracks” on the UC Santa Cruz Genome Browser.
There are two sets of maps. The first set is more scientifically oriented and displays the genes and phenotype regions based on their chromosomal location with links to information about their potential role in generating an abnormal phenotype. The second set are for those users just interested in the potential clinical effects of a given chromosome region.
Scientific Maps: This set of tracks includes two types of maps.
- Gene Dosage Maps: Each gene is depicted by location and classified with regard to the likelihood of being dosage sensitive. There is one track for the effects of hemizygosity (gene deletion) and one for suprazygosity (gene duplication). By clicking on the gene the user is taken to the details pages with supporting data. Link to Genome Browser page:
- Phenotype Maps: 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. By clicking on the gene the user is taken to the details pages with supporting data. Link to Genome Browser page:
Clinical Maps: These maps include just a subset of the data from the scientific maps. The scientific maps include data on every gene on chromosome 18 genes have a potential impact when present in fewer or more than the typical two copies, these Clinical Dosage Maps only include information on this small number of directly clinically relevant genes and regions. They do not include data on genes that are merely risk factors for disease.
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.