Acetylation/Methylation relation with genetic diseases

Question

[ashvinwizzkid]

Hi,

For my project I am looking for genomic features to use in a machine learning model. My instances in my model are genomic variants. And the goal of the model is to predict whether they are involved in certain genetic diseases or not.

In order to do this, I would like to use the acetylation and/or methylation intensity of the sequence region of the variants. I have heard and seen in other tools that they are useful. But I am not sure about their relation with genetic diseases. Could someone tell me how acetylation and methylation of certain variants is involved in genetic diseases?

Thanks in advance

Cheers A

Answer 1

[DG]

This is too big of a topic to adequately cover here and definitely goes into the molecular biology versus the bioinformatics of the question. As is usual for me my recommendation here is to go to the literature. Are you looking at genetic disease broadly or focused on Mendelian diseases? Complex genetic diseases? Cancer? All of that matters a great deal as to what areas of the literature you want to focus on. In the case of Mendelian diseases it would also matter if you are trying to identify genes involved in the pathogenesis, or genes that are the direct underlying cause of the disease. These are again, two very different things.

[ashvinwizzkid]

Hi Dan,

Thanks for you reply. I am not researching a disease in particular. My purpose is to find sequence information on non-coding variants which I can use to construct a machine learning model which predicts a certain continues variable (ASE-value). I thought if my variants were in acetylation/methylation regions, they will change the function of the non-coding DNA region in which these variants were found. I have heard that changes in these non-coding regions can lead to certain diseases.

Cheers A

[DG]

It's a really complex topic that requires reading the literature. Not all epigenetic changes are involved in disease. And various types of genetic diseases (mendelian, complex, cancer) have a lot of differences between them.