Article

Prediction of recessive inheritance for missense variants in human disease

2021-10-26

Abstract excerpt

The prediction of pathogenic human missense variants has improved in recent years, but a more granular level of variant characterization is required. Further axes of information need to be incorporated in order to advance the genotype-to-phenotype map. Recent efforts have developed mode of inheritance prediction tools; however, these lack robust validation and their discrimination performance does not support clin...

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Literature Corpus work: a6ad6c40-949f-5cfe-b37e-63d75885a908
DOI: 10.1101/2021.10.25.21265472

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