Author

Ignacio Aldana

Bupa Chile

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Cristian Saavedra· 1 shared José Patricio MirandaiD· 1 shared Lorena Carvajal· 1 shared Pablo Alarcón· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenetics

Cristian Saavedra

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1 paper

Recent·Most cited

Beyond a single threshold: calibration of CADD v1.7 and AlphaGenome for ACMG/AMP computational evidence across variant classes, model versions, and reference data

José Patricio Miranda, Lorena Carvajal, Ignacio Aldana, Pablo Alarcón, Cristian Saavedra

This paper calibrates CADD v1.7 and AlphaGenome AVI for ACMG/AMP computational evidence across variant classes, showing AVI outperforms CADD and highlights the need for class-specific thresholds.

bioRxiv · Nov 2, 2026 · PreprintGenetics