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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

E. Macháčková

h-index 18 View on Semantic Scholar

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Review Open access Aug 2026

Polygenic risk score and its role in cancer susceptibility.

BACKGROUND Polygenic risk score (PRS) has the ability to stratify inherited susceptibility to cancer and, as a complement to monogenic testing, can identify individuals at increased genetic risk even when no pathogenic variant is detected in high- or moderate-penetrance genes. It reflects the combined additive effects...

Adéla Mišove, E. Macháčková, Klára Nováková et al. · 0 citations
Aug 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) research consortium conducted a comprehensive study to characterize spliceogenic variants in BRCA1 exon 18, indicating the degree of splice perturbation required to impair BRCA1 function may depend on the nature of the resulting non-f...

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L. S. Mesman et al. · 0 citations

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