Article

SHINE: Protein Language Model based Pathogenicity Prediction for Inframe Insertion and Deletion Variants

2022-09-02

Abstract excerpt

Inframe insertion and deletion variants (indels) alter protein sequence and length. Accurate pathogenicity predictions are important in genetic studies of human diseases. Indel Interpretation is challenging due to limitations in the available number of known pathogenic variants for training. Existing methods largely use manually encoded features including conservation, protein structure and function, and allele fr...

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Literature Corpus work: 34cfd098-38d8-5fc6-8aff-16adc75028c4
DOI: 10.1101/2022.08.30.505840

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