Our Research

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

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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 Hypercholesterolemia Mexico Genomics Polygenic Risk Score Ancestry
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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 disease metabolic risk factors primary healthcare Mexico healthcare 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 score genetic diversity common diseases health 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 Hypercholesterolemia genetic analysis Mexican population genetic 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

AI machine learning diabetes digital 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

DM2 digital repository interoperability health 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 data clinical trials DiabetIA Mexico
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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 health diabetes health 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 health diabetes health 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 health diabetes health 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 learning diabetes complications predictive models healthcare 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

biobank genotyping Latin America genetic 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 risk genetic models validation scalability
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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 scores gout continental populations genetic 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-analysis polygenic scores web tools clinical 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 risk polygenic risk scores direct-to-consumer genetics precision health
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Publication date: 2022
Authors: Lopez-Pineda, A., Vernekar, M., …, Nava-Aguilar, M.A., Gonzalez-Arroyo, G., … & Bustamante, C. D.