Author

José Patricio Miranda

Bupa ChileORCID 0000-0002-8270-1112Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Approach:matrix factorization· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alicia R. MartiniD· 1 shared Alistair Turcan· 1 shared Christopher A. HaimaniD· 1 shared Cristian Saavedra· 1 shared Devika GodboleiD· 1 shared Dezheng HuoiD· 1 shared Diptavo DuttaiD· 1 shared Douglas F. EastoniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alicia R. MartinORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

𝕏 PostBluesky

Genetic & Genomic MedicineJNCI Cancer SpectrumPeer-reviewedSep 25, 2026

Genetic and Cellular Architecture of Breast Cancer Risk Across Ancestries

James Li, Maria Zanti, Jacob Williams…·Haoyu Zhang

This study analyzes breast cancer GWAS across multiple ancestries, finding similar heritability and genetic correlations, and identifies shared regulatory and cellular contexts.

1 citation

humanGWAS summary statistics

𝕏 PostBluesky