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

Studies in health technology and informatics - 22 Aug 2024

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

Abstract excerpt

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...

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PMID: 39176534
DOI: 10.3233/SHTI240747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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