souhridm / DiGePred

Random Forest classifier designed to predict pairs of human genes capable to causing a digenic disease when carrying rare variants simultaneously. DiGePred has been trained using digenic pairs from DIDA and non-digenic pairs from unaffected relatives of individuals with rare undiagnosed disease.
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Recommendation for score #1

Open ghost opened 2 years ago

ghost commented 2 years ago

Hello, I'm using the DiGePred scores to annotate rare variants. In the Wiki page it is recommended to use "unaffected no gene overlap score" model. What threshold would you suggest for using scores for "unaffected no gene overlap" model ? In the paper 0.53 was suggested for Digenic score. Should we use the same score for "unaffected no gene overlap" model?

souhridm commented 2 years ago

The score for the “unaffected no gene overlap” model is 0.496. Also, the DiGePred manuscript has been published in AJHG in September 2021. Please refer to https://www.cell.com/ajhg/fulltext/S0002-9297(21)00318-9 https://pubmed.ncbi.nlm.nih.gov/34529933/

for the updated manuscript.

Thanks

Best regards

Souhrid

PhD candidate Tony Capra lab | Jens Meiler lab Dept. of Biological Sciences | Center for Structural Biology Vanderbilt University | Nashville | TN | USA On Oct 19, 2021, 3:18 PM -0500, arton2008 @.***>, wrote:

Hello, I'm using the DiGePred scores to annotate rare variants. In the Wiki page it is recommended to use "unaffected no gene overlap score" model. What threshold would you suggest for using scores for "unaffected no gene overlap" model ? In the paper 0.53 was suggested for Digenic score. Should we use the same score for "unaffected no gene overlap" model?

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ghost commented 2 years ago

That's awesome. Thank you.

souhridm commented 2 years ago

Happy to help! Please let us know if you have any other questions.

PhD candidate Tony Capra lab | Jens Meiler lab Dept. of Biological Sciences | Center for Structural Biology Vanderbilt University | Nashville | TN | USA On Oct 19, 2021, 4:33 PM -0500, arton2008 @.***>, wrote:

That's awesome. Thank you.

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