Article

NCBoost v2: a classifier for non-coding variants in Mendelian diseases

2025-09-19

Abstract excerpt

<h4>Motivation</h4> The current diagnostic rate of rare diseases through whole-genome sequencing has stabilized at around 30% on average, highlighting the need for improved computational scores to identify pathogenic variants. In 2019, we developed NCBoost, a supervised-learning approach that mined a comprehensive set of sequence constraint features and proved particularly well suited to identifying high-effect p...

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Literature Corpus work: 5998b6b5-1638-544f-bd4b-0711407ecd9a
DOI: 10.1101/2025.09.18.25336072

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