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Identification of Disease Genes

Description:

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.

To register, please visit the Registration Page.

Webpage Modified: October 14, 2009

Formats for Training:

Class

Class

	Dates	Times	Location
	2010/02/04	1.30PM-3.30PM	NIH Library Training Room, First Floor --Registration Page
	Hands-on. Free. HHS staff only. For more information call 301-496-1080
	Objectives: Compare ESTs from a hemochromatosis patient to the human genome. Identify the gene(s) aligning the ESTs and download their sequences. Identify whether the ESTs contain any known nucleotide variations (single nucleotide polymorphisms). Determine whether a mutant form of the gene is known to cause a phenotype.
	Who Should Attend: Any NIH staff member with an interest in the topic

	Useful Handouts/Links: This class is based on one of the mini-courses developed by the instructor Dr. Medha Bhagwat while working at NCBI NCBI Mini-Courses


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