Exploring Research Advances to Transform Health

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

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

Pre-print

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.

2025

MedRXiv

https://doi.org/10.1101/2025.04.24.25325891

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

2025

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

Research Article

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

2024

PeerJ

https://doi.org/10.7717/peerj.17817

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

2024

Polygenic risk score portability for common diseases across genetically diverse populations

Research Article

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

2024

Human Genomics, 18(1), 93

https://doi.org/10.1186/s40246-024-00664-y

polygenic risk score genetic diversity common diseases health equity

Polygenic risk score portability for common diseases across genetically diverse populations

2024

Comprehensive genetic analysis of the Mexican Familial Hypercholesterolemia Registry participants

Poster

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.

2024

Familial Hypercholesterolemia genetic analysis Mexican population genetic counseling

Comprehensive genetic analysis of the Mexican Familial Hypercholesterolemia Registry participants

2024

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

Poster

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

2024

AI machine learning diabetes digital health

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

2024

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

Poster

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

2024

DM2 digital repository interoperability health research

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

2024

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

Poster

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

2024

real-world data clinical trials DiabetIA Mexico

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

2024

Si eres diabético, cuida tus pies

Popular Science

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

2024

Saber Mas

public health diabetes health education

Si eres diabético, cuida tus pies

2024

Neuropatía diabética: La enfermedad del «calcetín y guante»

Popular Science

Cortés-Vieyra, R., & López-Pineda, A.

2024

Saber Mas

public health diabetes health education

Neuropatía diabética: La enfermedad del «calcetín y guante»

2024

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

Popular Science

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

2024

Saber Mas

public health diabetes health education

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

2024

DiabetIA: Building Machine Learning Models for Type 2 Diabetes Complications

Pre-print

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.

2023

https://doi.org/10.1101/2023.10.22.23297277

machine learning diabetes complications predictive models healthcare innovation

DiabetIA: Building Machine Learning Models for Type 2 Diabetes Complications

2023

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

Poster

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.

2023

https://drive.google.com/file/d/17600LCBALPnRl5BZ6z9Xft5rcaPRyucI/view

biobank genotyping Latin America genetic testing

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

2023

A framework to evaluate and validate polygenic risk models at scale

Poster

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.

2023

polygenic risk genetic models validation scalability

A framework to evaluate and validate polygenic risk models at scale

2023

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

Oral Presentation

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.

2023

https://drive.google.com/file/d/17600LCBALPnRl5BZ6z9Xft5rcaPRyucI/view

polygenic risk scores gout continental populations genetic epidemiology

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

2023

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

Abstract

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

2023

Journal of Clinical Oncology

meta-analysis polygenic scores web tools clinical oncology

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

2023

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

Research Article

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

2022

Human genomics, 16(1), 1-10

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

2022

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

Pre-print

Pineda, A. L., Vernekar, M., Grau, S. M.,

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