The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

ESTUDIO PRELIMINAR DE LOS POLIMORFISMOS DEL GEN GRIN-1 DEL RECEPTOR NMDA EN UNA POBLACIÓN SANA COLOMBIANA

Se ha encontrado que el gen GRIN-1 juega un papel fundamental en muchas funciones cerebrales y se le ha asociado con numerosas enfermedades razón por la cual ha despertado un gran interés científico el conocimiento del polimorfismo de este gen entre la población normal y enferma. Hasta el momento no han sido identificados polimorfismos que lleven a un cambio de aminoácido en la proteína y los estudios poblacionales hechos hasta la fecha sólo incluyen caucásicos, africanos americanos y asiáticos. En este trabajo se estudiaron los polimorfismos genéticos del gen GRIN-1 ubicados en la región 5’-UTR y en los exones 3, 6 y 16. Se encontró que la población estudiada se diferencia significativamente de caucásicos y no difiere significativamente de otros grupos étnicos

ESTUDIO PRELIMINAR DE LOS POLIMORFISMOS DEL GEN GRIN-1 DEL RECEPTOR NMDA EN UNA POBLACIÓN SANA COLOMBIANA

Se ha encontrado que el gen GRIN-1 juega un papel fundamental en muchas funciones cerebrales y se le ha asociado con numerosas enfermedades razón por la cual ha despertado un gran interés científico el conocimiento del polimorfismo de este gen entre la población normal y enferma. Hasta el momento no han sido identificados polimorfismos que lleven a un cambio de aminoácido en la proteína y los estudios poblacionales hechos hasta la fecha sólo incluyen caucásicos, africanos americanos y asiáticos. En este trabajo se estudiaron los polimorfismos genéticos del gen GRIN-1 ubicados en la región 5’-UTR y en los exones 3, 6 y 16. Se encontró que la población estudiada se diferencia significativamente de caucásicos y no difiere significativamente de otros grupos étnicos

RESEARCH NOTE - Isoenzymatic Characterization of Colombian Strains of Trypanosoma cruzi

Trypanosoma cruzi, the causative agent of Chagas' disease is a highly pleomorphic parasite with a complex life cycle involving both a vertebrate host and an invertebrate vector. Several studies have been done because of its large biological and genetic variability. One of the methods that has been widely used for characterization of T. cruzi strains is isoenzyme analysis. P Ready and M Miles defined three zymodemes termed I (Z1), II (Z2) and III (Z3), based on Brazilian strains

RESEARCH NOTE - Isoenzymatic Characterization of Colombian Strains of Trypanosoma cruzi

Trypanosoma cruzi, the causative agent of Chagas' disease is a highly pleomorphic parasite with a complex life cycle involving both a vertebrate host and an invertebrate vector. Several studies have been done because of its large biological and genetic variability. One of the methods that has been widely used for characterization of T. cruzi strains is isoenzyme analysis. P Ready and M Miles defined three zymodemes termed I (Z1), II (Z2) and III (Z3), based on Brazilian strains