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

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Luc Mottin, Nona Naderi, Anaïs Mottaz, Pierre-André Michel, Lennart F. Johansson, Morris A. Swertz, Andrew Stubbs, Emilie Pasche, Julien Gobeill, Patrick Ruch. Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants. In John Mantas, Arie Hasman, George Demiris, Kaija Saranto, Michael Marschollek, Theodoros N. Arvanitis, Ivana Ognjanovic, Arriel Benis, Parisis Gallos, Emmanouil Zoulias, Elisavet Andrikopoulou, editors, Digital Health and Informatics Innovations for Sustainable Health Care Systems - Proceedings of MIE 2024, Athens, Greece, 25-29 August 2024. Volume 316 of Studies in Health Technology and Informatics, pages 1684-1688, IOS Press, 2024. [doi]

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