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Proceedings/Recueil Des Communications Année : 2024

Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants

Luc Mottin
Anaïs Mottaz
Pierre-André Michel
Gerieke Been
Lennart Johansson
Morris Swertz
Emilie Pasche
Julien Gobeill
Patrick Ruch

Résumé

Assessing the pathogenicity of genetic variants is a critical aspect of genomic medicine and precision healthcare. Over the last decades, the identification of genetic variants and their characterization has become simpler (advent of high-throughput sequencing technologies, analysis, and visualization support tools, etc.). However, the quality of assessments to distinguish benign from pathogenic variants is critical to inform clinical decision-making and improve patient outcomes. In this article, we investigate the relationships using correlation tests between the characterization of genetic variants in the literature and their pathogenicity scores computed by two state-of-the-art assessment tools (SIFT and PolyPhen-2).

Dates et versions

hal-04682928 , version 1 (31-08-2024)

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Citer

Luc Mottin, Nona Naderi, Anaïs Mottaz, Pierre-André Michel, Gerieke Been, et al.. Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants. 34th Medical Informatics Europe Conference, IOS Press, 2024, Studies in Health Technology and Informatics, ⟨10.3233/SHTI240747⟩. ⟨hal-04682928⟩
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