Author

Ignacio Aldana

Bupa Chile

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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

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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

GeneticsbioRxivPreprintNov 2, 2026

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…·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.

DOI 10.64898/2026.10.31.763309

humanwhole-genome sequencing

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