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Using Bioinformatics to Understand Genetic Diseases: A Practical Guide

Author(s): 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)

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

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

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

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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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