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There are estimated to be a total of over 8,000 rare Mendelian disease while less than 5,000 diseases have been definitively diagnosed thus far. Hundreds of novel gene-disease-phenotype relationships are discovered every year resulting in a continously growing knowledgebase in literature. It is a time consuming process for clinicians to diagnose patients with rare diseases (estimated 1hr/gene). I am developing computational methods and tools to improve the disease diagnosis process.
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