Author

Raúl Cumbrera

ORCID 0009-0004-6666-3381Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1

Frequent Co-Authors

Gumercindo Pimentel-PeraltaiD· 2 shared Iván LandiresiD· 2 shared Virginia Núñez-SamudioiD· 2 shared Alexandra Nieto· 1 shared José Pinto-LlerenaiD· 1 shared Karen CourvilleiD· 1 shared Mauricio Arcos‐BurgosiD· 1 shared Norman BustamanteiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gumercindo Pimentel-PeraltaORCID

Mutual co-authors in cluster

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2 papers

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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintFeb 22, 2024

Exome Analysis Points APOE4 Haplotype as Major Risk to Develop Mesoamerican Nephropathy

Iván Landires, Karen Courville, Gumercindo Pimentel-Peralta…·Virginia Núñez-Samudio

The study identifies the APOE4 haplotype as a major genetic risk factor for Mesoamerican Nephropathy and links it to elevated uric acid levels.

DOI 10.1101/2024.02.22.24303190

humanwhole-exome sequencing

𝕏 PostBluesky