Article

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

2023-03-09

Abstract excerpt

<h4>ABSTRACT</h4> Predicted loss of function (pLoF) variants are highly deleterious and play an important role in disease biology, but many of these variants may not actually result in loss-of-function. Here we present a framework that advances interpretation of pLoF variants in research and clinical settings by considering three categories of LoF evasion: (1) predicted rescue by secondary sequence properties, (2...

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Literature Corpus work: b8c19e2f-1fd2-51ce-a86b-c624e8959884
DOI: 10.1101/2023.03.08.23286955

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