Author

José Pinto-Llerena

ORCID 0000-0003-2200-2376Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandra Nieto· 1 shared Gumercindo Pimentel-PeraltaiD· 1 shared Iván LandiresiD· 1 shared Raúl CumbreraiD· 1 shared Virginia Núñez-SamudioiD· 1 shared Yennifer AlfaroiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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6 top collaborators · 15 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandra Nieto

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenesPeer-reviewedJul 28, 2025

Unusual profile of germline genetic variants in unselected colorectal cancer patients from a high-prevalence region in Panama

Iván Landires, José Pinto-Llerena, Raúl Cumbrera…·Virginia Núñez-Samudio

The study identifies germline genetic variants in 95 Panamanian colorectal cancer patients, finding 10% with pathogenic variants in MUTYH, CHEK2, and other genes, but no mutations in mismatch repair genes.

DOI 10.3390/genes16080890

humanwhole-exome sequencing

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