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AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.

Human genomics - 11 Sept 2024

Ahmad Rahaf M, Ali Bassam R, Al-Jasmi Fatma, Al Dhaheri Noura, Al Turki Saeed, Kizhakkedath Praseetha, Mohamad Mohd Saberi

Abstract excerpt

Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in oncology. Laboratory-based experimental methods for assessing these effects are time-consuming and often impractical, highlighting the importance of in-silico tools for variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39256852
DOI: 10.1186/s40246-024-00667-9
PMCID: PMC11389290

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