Gene Variation and Disease
Gene Variation and Disease
Doug Brutlag
Lecture Materials
Human Genome and Gene Databases
Single Nucleotide Polymorphisms (SNPs)
Structural Genomic Variations Slides
Lecture Video
SNP Resources
A SNP Primer at NCBI
Department of Energy SNP Page
SNP datbase dbSNP
International HapMap Project
Thousand Genome Project
Thousand Genomes Project at NHGRI
Structural Variation Resources
dbVAR Database at NCBI
Database of Genomics Variants
NHGRI Structural Variation Project
Human Genome Structural Variation Project
Personal Genomics and Genetic Testing
23andMe
Navigenics
DNADirect
Structural Variants in the Human Genome (copy number variations)
Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells Forsberg et al. (2012) The American Journal of Human Genetics 90, 217–228, February 10, 2012
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
Redon et al, 2006 - Global variation in copy number in the human genome
Sharp, Cheng & Eichler 2006- Structural Variation of the Human Genome
Mefford & Eichler 2009 - Duplication Hotspots, Rare Genetic Disorders, and common disease.
1000 Genome Project 2010 - A map of human genome variation frompopulation-scale sequencing
Lecture by Evan Eichler on Human Genome Structural Variation, Disease and EvolutionSecond Possible Homework Topic
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.