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Machine Learning/Deep Learning approaches to integrate genotype and annotation information for predictions?
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12 months ago
Leandro Lima • 920
San Francisco, CA

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

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16 months ago
Hussain Ather • 920
National Institutes of Health, Bethesda…

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

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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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