Amphora Health | Research

Pre-print | MedRXiv (2025)

Familial Hypercholesterolemia Mexico Genomics Polygenic Risk Score Ancestry

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

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Journal: MedRXiv

Publication date: 2025

Authors: Katsanis, N., Mourtzi, N., Quinto-Cortés, C. D., Martagon, A. J., Ioannidis, A. G., De La Vega, F. M., Gulcher, J., Lee, M. T. M., Faghihi, M. A., Lopez-Pineda, A., Moreno-Grau, S., Mas Montserrat, D., Barrabés, M., Bonet, D., Salazar Fernandez, P., Wall, J., Moatamed, B., Mehta, R., Galan-Ramirez, G. A., Zubirán, R., Elias-Lopez, D., FH Mexican Registry Group, Tusié-Luna, T., Aguilar-Salinas, C. A., & Bustamante, C. D.

Research Article | PeerJ (2024)

chronic kidney disease metabolic risk factors primary healthcare Mexico healthcare disparities

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

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Journal: PeerJ

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.

Research Article | Human Genomics, 18(1), 93 (2024)

polygenic risk score genetic diversity common diseases health equity

Polygenic risk score portability for common diseases across genetically diverse populations

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Journal: Human Genomics, 18(1), 93

Publication date: 2024

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

Poster | ASHG 2024 Annual Meeting (2024)

Familial Hypercholesterolemia genetic analysis Mexican population genetic counseling

Comprehensive genetic analysis of the Mexican Familial Hypercholesterolemia Registry participants

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ASHG 2024 Annual Meeting

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 (2024)

AI machine learning diabetes digital health

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

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1er Congreso de Salud Digital UNAM

Publication date: 2024

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

Poster | 1er Congreso de Salud Digital UNAM (2024)

DM2 digital repository interoperability health research

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

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1er Congreso de Salud Digital UNAM

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 (2024)

real-world data clinical trials DiabetIA Mexico

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

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1er Congreso de Salud Digital UNAM

Publication date: 2024

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

Popular Science | Saber Mas (2024)

public health diabetes health education

Si eres diabético, cuida tus pies

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Journal: Saber Mas

Publication date: 2024

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

Popular Science | Saber Mas (2024)

public health diabetes health education

Neuropatía diabética: La enfermedad del «calcetín y guante»

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Journal: Saber Mas

Publication date: 2024

Authors: Cortés-Vieyra, R., & López-Pineda, A.

Popular Science | Saber Mas (2024)

public health diabetes health education

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

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Journal: Saber Mas

Publication date: 2024

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

Pre-print | (2023)

machine learning diabetes complications predictive models healthcare innovation

DiabetIA: Building Machine Learning Models for Type 2 Diabetes Complications

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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.

Poster | MexPopGen 6th edition (2023)

biobank genotyping Latin America genetic testing

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

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MexPopGen 6th edition

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.

Poster | Annual Meeting of The American Society of Human Genetics (2023)

polygenic risk genetic models validation scalability

A framework to evaluate and validate polygenic risk models at scale

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Annual Meeting of The American Society of Human Genetics

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 (2023)

polygenic risk scores gout continental populations genetic epidemiology

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

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MexPopGen 6th edition

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.

Abstract | Journal of Clinical Oncology (2023)

meta-analysis polygenic scores web tools clinical oncology

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

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Journal: Journal of Clinical Oncology

Publication date: 2023

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

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

cardiometabolic risk polygenic risk scores direct-to-consumer genetics precision health

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

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Journal: Human genomics, 16(1), 1-10

Publication date: 2022

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

Our Research

Ready to use the evidence?

2025

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

2024

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

Polygenic risk score portability for common diseases across genetically diverse populations

Comprehensive genetic analysis of the Mexican Familial Hypercholesterolemia Registry participants

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

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

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

Si eres diabético, cuida tus pies

Neuropatía diabética: La enfermedad del «calcetín y guante»

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

2023

DiabetIA: Building Machine Learning Models for Type 2 Diabetes Complications

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

A framework to evaluate and validate polygenic risk models at scale

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

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

2022

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