Science Buddies: "Ask an Expert"

Hi! I am currently working on a science research project (to be presented at a science fair, senior division) about how specific genetic alterations may be correlated with type 2 diabetes. This is my first competitive science research experiment, and I'm very confused about how to effectively obtain/interpret the data.
I am planning on deriving results through a bioinformatics analysis of mass amounts of genomic datasets and gene variants; what are common or appropriate methods/approaches to genomic bioinformatics analyses?
Additionally, how would you measure the expression level or role of specific genes in chronic disease through computational analysis of genomic datasets, besides simply seeing if a variant is present or not?
I'm also unsure about the format of genomic (the entire genome of an individual) datasets or how to "open" them.

Thank you so much! Insights are appreciated

Hi,

Thank you for your questions! I am not a bioinformatician, but I can try to give you some insight on your project ideas! I found a project here on Science Buddies related to bioinformatics, where they use databases found on NCBI (https://www.ncbi.nlm.nih.gov/) to understand gene variants and single nucleotide polymorphisms (SNPs) present in human disease -- in this case they used cystic fibrosis. Here is the link for the project: https://www.sciencebuddies.org/science- ... e-medicine. To start, you could make a table of the genetic variants that come up when you search "type-2 diabetes" (I am sure there will be a lot). In this table, you can identify the variant, indicate which chromosome it is located on, and describe the consequences of this mutation (i.e., how does it impact physiology, particularly in relation to type-2 diabetes).

Hope this helps! Feel free to reach out if you have any questions or want to discuss further, but I hope this gives you a good start and some direction!

--Brandi