Article

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders

2024-01-04

Abstract excerpt

<title>Abstract</title> <p> Identifying causal mutations accelerates genetic disease diagnosis, and therapeutic development. Missense variants present a bottleneck in genetic diagnoses as their effects are less straightforward than truncations or nonsense mutations. While computational prediction methods are increasingly successful at prediction for variants in <italic>known</italic> disease genes, they do not...

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Literature Corpus work: e21fb181-3732-593f-b154-320e07916872
DOI: 10.21203/rs.3.rs-3740259/v1

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