Article

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

2024-09-21

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to Strong . A new generation of tools using distinctive approaches have since been released, and these methods must be independently calibrated for clinical applicati...

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Literature Corpus work: c19a3d6e-6c1e-59f0-b8ac-fbb57091f41e
DOI: 10.1101/2024.09.17.611902

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