Question: Machine Learning/Deep Learning approaches to integrate genotype and annotation information for predictions?
1
gravatar for Leandro Lima
9 months ago by
Leandro Lima900
San Francisco, CA
Leandro Lima900 wrote:

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

ADD COMMENTlink modified 9 months ago by Hussain Ather880 • written 9 months ago by Leandro Lima900
0
gravatar for Hussain Ather
9 months ago by
Hussain Ather880
National Institutes of Health, Bethesda, MD
Hussain Ather880 wrote:

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

ADD COMMENTlink written 9 months ago by Hussain Ather880

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

ADD REPLYlink written 9 months ago by Leandro Lima900
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