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iobio / gene.iobio

Gene.iobio vue
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Add DANN score from VarSome API on Variant Detail #266

Closed tonydisera closed 4 years ago

tonydisera commented 6 years ago

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tonydisera commented 6 years ago

DANN is a pathogenicity scoring methodology developed by Daniel Quang, Yifei Chen and Xiaohui Xie at the University of California, Irvine. It is based on deep neural networks.

The value range is 0 to 1, with 1 given to the variants predicted to be the most damaging.

The authors request that you cite their publication.

mvelinder commented 4 years ago

DANN could be useful. In my anecdotal experience it tends to be very inflated and likely false positive in scores. The vast majority of variants I end up looking at have super high (> 0.9) DANN scores, while other prediction tools are more modest.