Machine Learning/Deep Learning approaches to integrate genotype and annotation information for predictions?

Question

[Leandro Lima]

Hi, everyone.

I'm looking for some material (papers/tools) showing approaches to integrate genotype information (e.g. from WGS) and the variant/gene annotations to do predictions (e.g. age of onset, phenotype) with ML/DL.

Any recommendations?

Thanks in advance,
Leandro

Answer 1

[Hussain Ather]

Guzzetta et al https://bmcbioinformatics.biomedcentral.com/articles/10.1186/1471-2105-11-S8-S3

[Leandro Lima]

Thanks for the link, Hussain. They use genotype information, but they are not using any annotation (e.g. functional impact, frequency, etc.).