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Using Bioinformatics to Understand Genetic Diseases: A Practical Guide

By Marie-Claude Blatter1, Patricia Palagi1, Teresa Attwood2

1. SIB Swiss Institute of Bioinformatics, Geneva, Lausanne (CH). 2. School of Computer Science, The University of Manchester, Oxford Road, Manchester M13 9PL (UK)

This Practical Guide outlines a number of basic bioinformatics approaches that can be used to understand the molecular basis of genetic diseases.

Listed in Teaching Materials | resource by group Network for Integrating Bioinformatics into Life Sciences Education

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Version 1.0 - published on 03 Dec 2020 doi:10.25334/DWYN-MX54 - cite this

Licensed under CC Attribution-ShareAlike 4.0 International according to these terms

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Description

This Practical Guide outlines a number of basic bioinformatics approaches that can be used to understand the molecular basis of genet- ic diseases. A rare variation in the insulin gene is discussed, and the impact of the variation on the gene product, and how this results in disease, is explored.

This Guide introduces a range of commonly used bioinformatics tools and databases with which to analyse both DNA and protein se- quences, and protein structures. On reading the Guide and completing the exercises, you will be able to:

  • investigate the locations of genes on the human genome using a genome browser;

  • compare DNA sequences using an alignment tool;

  • >translate a DNA sequence into its protein product;

  • search a protein structure database, and visualise the 3D structure of insulin; and

  • infer whether insulin is specific to humans by using protein sequence database search tools.

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