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

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
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updated by Hussain Ather Hussain Ather • written by Leandro Lima Leandro Lima

1 answer

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

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written by Hussain Ather Hussain Ather

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

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written by Leandro Lima Leandro Lima

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