Lab 7 Manual

Lab 7 Manual - Bioinformatics and NCBI INTRODUCTION...

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Bioinformatics and NCBI INTRODUCTION Complete genomes sequences are available for over 500 different organisms and 2500 more genome projects are in progress. Additionally, the genome sequence of individuals or strains within a species are becoming available, revolutionizing the way we study genetic disease, trait variation and evolution. The direct product of all these genome projects is a tremendous amount of data in the form of nucleotide sequences. Access to these resources has revolutionized the way biologists operate: most modern laboratories have more computers than centrifuges. The purpose of this lab is to teach you to use some of the bioinformatics tools freely available to the scientific community, and in the process, to reinforce the concepts of the central dogma of molecular biology. You have probably heard DNA referred to as the blueprint of life. While most people can find the kitchen on a blueprint, an architect can find the weight-bearing beams and estimate the stability during an earthquake. Similarly, you might guess that a string of G’s, A’s, T’s, and C’s is DNA, but identifying the part of the sequence translated into protein, or the function of the gene, requires training. All of these tools are readily available online from NCBI, the N ational C enter for B iotechnology I nformation, and other free public resources. Many human genetic diseases are caused by one altered base pair among the three billion in the human genome. But one base pair in every few hundred already varies between any two individuals in the human population without causing a defect. Add the fact that most genetic diseases are the composite of several genes each contributing to the disease state, and the successes of scientists doing genetic disease research seem even more heroic. To better understand DNA sequence variation, genetic disease and the genetic code, we will focus on a series of human genes that have been implicated in a variety of disease states. We will use bioinformatics tools to go from a small amount of information to a working knowledge of the DNA and protein sequences of medically relevant alleles. Best of all, you will be learning to use resources you will need if you continue in the biological sciences. References: Bioinformatics Tools General Information The days you might have spent tracking information through dimly lit library stacks a few years ago have been abbreviated to a few hours by search engines and online
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databases. Want some basic knowledge? Do a couple of Google searches, or look on Wikipedia. DO NOT believe everything you find on Google (especially treatments available for only $19.95!), but do not underestimate its power. You can verify the facts later. Two incredibly useful tools for researching human disease are
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This note was uploaded on 09/28/2009 for the course BIO 1al taught by Professor Pederson during the Fall '08 term at Berkeley.

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Lab 7 Manual - Bioinformatics and NCBI INTRODUCTION...

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