Determining the genetic framework of hereditary deafness using bioinformatics.

Document Type


Publication Date

Summer 2016

JAX Location

In: Student Reports, Summer 2016, Jackson Laboratory


Hearing loss is a common disorder affecting over 70 million people worldwide with half of the cases having genetic etiology. Genetic deafness can be caused by deformities in the inner and middle ear, neuronal complications, or both. Extensive research has been conducted on genetic deafness in order to identify the underlying genetic cause. Although much research has been conducted, many types of deafness syndromes still have no known genetic association. My project sought to investigate bioinformatics tools and methods for use in candidate gene searches. A list of 133 cytogenetic regions known to be associated with hearing loss was used to create a list of candidate genes. Utilizing several bioinformatics tools, the list of candidate genes was analyzed and refined to only those with strong ties to genetic deafness. By comparing the recall of the tools to a list of known deafness genes, each bioinformatics tool was evaluated on its ability to accurately recall the genes that were known to have associations with deafness. The tools were able to identify many known genes. Combining the results from multiple tools also resulted in the identification of three novel candidate genes with no prior deafness association suggesting a possible linkage to deafness.

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