Article

Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants

2021-09-09

Abstract excerpt

<title>Abstract</title> <p>Evolutionary information is the primary tool for detecting functional conservation in nucleic acid and protein. This information has been extensively used to predict structure, interactions and functions in macromolecules. Pathogenicity prediction models rely on multiple sequence alignment information at different levels. However, most accurate genome-wide variant deleteriousness rankin...

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Literature Corpus work: 30c921d6-3082-5fb8-a127-58973778bb02
DOI: 10.21203/rs.3.rs-884099/v1

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