Gene Variation and Disease
DNA Duplication Associated with Charcot-Marie-Tooth Disease Type 1A. Lupski, et al., 1991 Cell, Vol. 66, 219-232, July 26, 1991,
High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution. Hassin et al., 2008 PLOS Genetics November 2008 | Volume 4 | Issue 11 | e1000249
A map of human genome variation from population-scale sequencing. 1000 genomies Consortium 2010 NATURE | VOL 467 | 28 OCTOBER 2010
Describe a gene and how it causes a disease
1.Choose an inherited disease
2.Use OMIM database to find the gene causing the disease.
3.Go to Entrez Gene to see the description of the gene
4.Go to SNP Gene View to find variations that cause the disease
5.Describe how variations in the gene cause a disease.