Bioinformatics And Human Disease Assessment Answer

Assignment Task:

1. Underneath the gene name is the gene location, that is; the gene’s position (cytogenetic location) on either the p or the q arm of a particular human chromosome (you need to record this, see 2.5.). On the right-hand side there is a list of selectable options titled ‘Related Information’. From the Related Information list, click on the ‘Gene’ option and this selection will take you to a new webpage with a lot of information relating to your selected gene. On the Gene page, and from the ‘Table of Contents’ (right hand side of screen), select the ‘Genomic context’ option. In this section (the computer will automatically scroll down the page to this section for you), you are provided again with the cytogenetic location and the number of exons for your selected gene, record these (these two pieces of information are required for 2.5.). Next, return to the ‘Table of Contents’ and select the ‘Genome regions, transcripts and products’ option. In this section (the computer will again automatically scroll down the page to this section for you), you are provided with a DNA-based chromosome map for your selected gene. From this DNA-based chromosome map, you can determine the names of the (1) upstream gene and (2) downstream gene that flank your selected gene (as outlined in and required for 2.5.). 

2. Return to the previous screen (click on the back button twice to return to the previous screen) and then select your chosen gene by clicking on its name (gene name is hyperlinked). The new page that you have been redirected to provides a great deal of detailed information on the gene that you have selected for analysis. Scroll down through this gene information page until you find the ‘Allelic Variant’ section. This is a list of each characterised mutant variant (an allele) of your selected gene (mutant variants that have arisen from different nucleotide deletions, insertions or conversions)

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