This course deals with identification of a disease gene using NCBI's human genome assembly. The reference genome assembly, along with integrated maps, literature, and expression information comprises a powerful discovery system for exploring candidate human disease genes.
We will start with expressed sequences obtained from a patient, identify the gene(s) expressing them, download their sequences, determine the exon-intron structure and identify known SNPs in the expressed sequences, if any, that may contribute to the disease phenotype. This mini-course also demonstrates how to elucidate, if possible, the biochemical and structural basis for the function of the mutant protein leading to the disease phenotype.
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