Our Research

Check out the latest publications from Amphora Health, reflecting our commitment to cutting-edge biomedical research.

2025
Research Article Human Genomics

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus

Familial HypercholesterolemiaMexicoGenomicsPolygenic Risk ScoreAncestry
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Publication date

2025

Authors

Nicholas Katsanis, Niki Mourtzi, Consuelo D. Quinto-Cortés, Alexandro J. Martagon, Alexander G. Ioannidis, Francisco M. De La Vega, Jeff Gulcher, Ming Ta Michael Lee, Mohammad A. Faghihi, Arturo Lopez-Pineda, Sonia Moreno-Grau, Daniel Mas Montserrat, Míriam Barrabés, David Bonet, Pavel Salazar Fernandez, Jeff Wall, Babak Moatamed, Roopa Mehta, Gabriela A. Galan-Ramirez, Rafael Zubirán, Daniel Elias-Lopez, Teresa Tusié-Luna, Carlos A. Aguilar-Salinas, Carlos D. Bustamante & F. H. Mexican Registry Group

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2024
Research Article PeerJ

Prevalence and metabolic risk factors of chronic kidney disease among a Mexican adult population: a cross-sectional study in primary healthcare medical units

chronic kidney diseasemetabolic risk factorsprimary healthcareMexicohealthcare disparities
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Publication date

2024

Authors

Paredes, A. R. A., García, A. G., Paredes, M. A. A., Velázquez, N., Bolaños, D. C. O., Sandoval, M. S. P., … & Aguilar, C. A.

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Research Article Human Genomics, 18(1), 93

Polygenic risk score portability for common diseases across genetically diverse populations

polygenic risk scoregenetic diversitycommon diseaseshealth equity
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Publication date

2024

Authors

Moreno-Grau, S., Vernekar, M., Lopez-Pineda, A., Mas-Montserrat, D., Barrabés, M., Quinto-Cortés, C. D., … & Bustamante, C. D.

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Poster ASHG 2024 Annual Meeting

Comprehensive genetic analysis of the Mexican Familial Hypercholesterolemia Registry participants

Familial Hypercholesterolemiagenetic analysisMexican populationgenetic counseling
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Publication date

2024

Authors

Salazar-Fernandez, E. P., Quinto-Cortés, C. D., Mourtzi, N., Moreno-Grau, S., Mas, D., Barrabes, M., Bonet, D., Lopez-Pineda, A., Wall, J., Ioannidis, A. G., Bustamante, C. D., Katsanis, N., Martagon, A. J., Mehta, R., Galan-Ramirez, G. A., Zubirán, R., Elias-Lopez, D., FH Mexican Registry Group, Tusié-Luna, T., & Aguilar-Salinas, C. A.

Poster 1er Congreso de Salud Digital UNAM

Reto CAMDA: Una exploración de IA y ML aplicado a diabetes

AImachine learningdiabetesdigital health
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Publication date

2024

Authors

Santana-Quinteros, D., Tripp, J., Figueroa, K., Selem, N., & Lopez-Pineda, A.

Poster 1er Congreso de Salud Digital UNAM

Construyendo un repositorio institucional, interoperable y digital para facilitar la investigación de DM2

DM2digital repositoryinteroperabilityhealth research
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Publication date

2024

Authors

Tripp, J., Rodríguez Morán, M. F., Quiroz Armada, P. S., Alvarez Aguilar, C., Gómez Garcia, A., & López Pineda, A.

Poster 1er Congreso de Salud Digital UNAM

DiabetIA, un recurso a partir de datos del mundo real para emular ensayos clínicos en México

real-world dataclinical trialsDiabetIAMexico
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Publication date

2024

Authors

Rodríguez Morán, M. F., Alvarez Aguilar, C., López Pineda, A., Tripp Gudiño, J., & Gómez García, A.

Popular Science Saber Mas

Si eres diabético, cuida tus pies

public healthdiabeteshealth education
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Publication date

2024

Authors

Flores-Álvarez, L. J., & Álvarez-Aguilar, C.

Popular Science Saber Mas

Neuropatía diabética: La enfermedad del «calcetín y guante»

public healthdiabeteshealth education
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Publication date

2024

Authors

Cortés-Vieyra, R., & López-Pineda, A.

Popular Science Saber Mas

La diabetes mellitus tipo 2: ¿Cómo afecta al riñón?

public healthdiabeteshealth education
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Publication date

2024

Authors

Zinzun-Ixta, G., & Rodríguez-Morán, M. F.

2023
Pre-print

DiabetIA: Building Machine Learning Models for Type 2 Diabetes Complications

machine learningdiabetes complicationspredictive modelshealthcare innovation
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Publication date

2023

Authors

Tripp J., Santana-Quinteros, D., Perez-Estrada, R., Rodriguez-Moran, M. F. ..., Flores-Garrido, M., Garcia-Velazquez, L.M., Figueroa-Mora, K.M., Gomez-Garcia, A., Alvarez-Aguilar, C., Lopez-Pineda, A.

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Poster MexPopGen 6th edition

The Biobank of the Americas: An Exploration on a Direct-to-Consumer Genotyping Service for Latin America

biobankgenotypingLatin Americagenetic testing
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Publication date

2023

Authors

Salazar-Fernandez, EP; Quinto-Cortés, CD; Gonzalez-Arroyo, G; Moreno Grau, S; Lopez-Pineda, A; Nava-Aguilar, MA; Moatamed, B; Lee, MT; Wall, J; Katsanis, N; Ioannidis, A; and Carlos D. Bustamante.

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Poster Annual Meeting of The American Society of Human Genetics

A framework to evaluate and validate polygenic risk models at scale

polygenic riskgenetic modelsvalidationscalability
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Publication date

2023

Authors

Moreno Grau S., Vernekar M., Lopez-Pineda A., Nava-Aguilar M. A., Quinto-Cortés C., Moatamed B., Lee M., Yu Z., Numakura K., Matsuda Y., Wall J. D., Ioannidis A., Katsanis N., Takano T., Bustamante C.

Oral Presentation MexPopGen 6th edition

Assessment of polygenic risk score models across continental populations: a study in gout

polygenic risk scoresgoutcontinental populationsgenetic epidemiology
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Publication date

2023

Authors

Nava-Aguilar, MA; Moreno-Grau, S; Lopez-Pineda, A; Wall, J; Salazar-Fernandez, EP; Quinto-Cortés, CD; Gonzalez-Arroyo, G.; Moatamed, B; Lee, MT; Katsanis, N; Ioannidis, A; and Carlos D. Bustamante.

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Abstract Journal of Clinical Oncology

PGS-Explorer: A web-based meta-analysis tool for polygenic scores

meta-analysispolygenic scoresweb toolsclinical oncology
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Publication date

2023

Authors

Lopez Pineda, A., Perez Estrada, R., Nava-Aguilar, M. A., Menchaca Mendez, A., Anaya-Muñoz, V. H., & Moreno-Grau, S.

2022
Research Article Human genomics, 16(1), 1-10

Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research

cardiometabolic riskpolygenic risk scoresdirect-to-consumer geneticsprecision health
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Publication date

2022

Authors

Lopez-Pineda, A., Vernekar, M., …, Nava-Aguilar, M.A., Gonzalez-Arroyo, G., … & Bustamante, C. D.