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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...

Topics

Humans
Genetic Variation
Genetic Predisposition to Disease
Sequence Analysis, DNA
DNA Mutational Analysis

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39176534
DOI: 10.3233/SHTI240747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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