BioInformatics

Fundamentals of Bioinformatics

Human Genetics and Genomics

The assignment posted on WebCT will guide you through this topic. Follow the links as directed in the assignment, read what you are asked to, collect the necessary information, and answer the questions.

Contents:

Introduction - Genetic variation in humans
Gene mapping
Human genetic diversity
Quantitative traits
Gene expression patterns in disease
Conclusion—The future of human genomics

Introduction - Genetic variation in humans

	URL
1	http://en.wikipedia.org/wiki/Chromosome_abnormalities	Wikipedia–Chromosomal abnormalities
2	http://cgap.nci.nih.gov/	Cancer Genome Anatomy Project (CGAP)
3	http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim	Online Mendelian Inheritance in Man (OMIM)

Gene mapping

	URL	Description
4	http://en.wikipedia.org/wiki/Genetic_linkage	Wikipedia–Genetic linkage
5	http://en.wikipedia.org/wiki/Linkage_disequilibrium	Wikipedia–Linkage disequilibrium

Human genetic diversity

	URL	Description
6	http://www.ncbi.nlm.nih.gov/SNP/	Single Nucleotide Polymorphisms
7	http://www.hapmap.org/	HapMap

Quantitative traits

	URL	Description
8	http://en.wikipedia.org/wiki/Polygenic_inheritance	Wikipedia: Quantitative trait loci
9	http://www.informatics.jax.org/~cjb/qtldb/qtl_home.html	Mouse QTL

Gene expression patterns in disease

	URL	Description
10	http://www.nature.com/nature/journal/v452/n7186/full/7186xiiib.html http://www.nature.com/nature/journal/v452/n7186/full/nature06758.html http://www.nature.com/nature/journal/v452/n7186/full/nature06757.html	Recent articles from the journal Nature

Conclusion—The future of human genomics

	URL	Description
11	http://www.genome.gov/PolicyEthics/	Costs and benefits, Ethical considerations