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Question: Machine Learning/Deep Learning approaches to integrate genotype and annotation information for predictions?
1
gravatar for Leandro Lima
3 months ago by
Leandro Lima • 880
San Francisco, CA
Leandro Lima • 880 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
machine learning deep learning annotation • 230 views
ADD COMMENT • link •
modified 3 months ago by Hussain Ather • 820 • written 3 months ago by Leandro Lima • 880
0
gravatar for Hussain Ather
3 months ago by
Hussain Ather • 820
National Institutes of Health, Bethesda, MD
Hussain Ather • 820 wrote:

Guzzetta et al https://bmcbioinformatics.biomedcentral.com/articles/10.1186/1471-2105-11-S8-S3
ADD COMMENT • link written 3 months ago by Hussain Ather • 820

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

ADD REPLY • link written 3 months ago by Leandro Lima • 880
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