Resources

Resource Image

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)

765 total view(s), 166 download(s)

0 comment(s) (Post a comment)

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

Alignments

    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.

    Cite this work

    Researchers should cite this work as follows: