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Article

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

Bioinformatics (Oxford, England) - 3 May 2026

Caron Barthélémy, Rausell Antonio

Abstract excerpt

MOTIVATION: 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...

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PMID: 41883150
DOI: 10.1093/bioinformatics/btag138
PMCID: PMC13141147

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