Author

A. Saez-Matia

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Pathology· 1

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Assay:DNA methylation· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

A. Bergara· 1 shared A. Leonardo· 1 shared A. Muguruza-Montero· 1 shared A. Villarroel· 1 shared C. Fons· 1 shared E. Nunez· 1 shared M. Garcia-Ibarlueza· 1 shared O. R. Ballesteros· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperPathology

A. Bergara

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1 paper

Recent·Most cited

PathologybioRxivPreprintOct 20, 2022

Improved KCNQ2 gene missense variant interpretation with artificial intelligence

A. Saez-Matia, A. Muguruza-Montero, S. M-Alicante…·A. Villarroel

The paper develops a gene-specific machine learning model to improve the prediction of KCNQ2 missense variant pathogenicity with high sensitivity and specificity.

DOI 10.1101/2022.10.20.513007

humanDNA methylation

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