Accès ouvert
2025
article
OpenAlex
Nicole Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack et autres
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting terminological coding systems and practices used to represent …
us, gb, nl, br, dk, jp, au, sg, de, fr, it, ru, my
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Daniel Olson, Ian Braun, Emily Hartley, Ramona Walls et autres
Objectives: Demonstrate a methodology for improving discoverability of rare disease datasets by enriching source data with biological associations. Materials and Methods: We developed an extension of the Biolink semantic model to incorporate patient data and generated a knowledge graph (KG) comprising patient …
us
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Ian Braun, Emily Hartley, Daniel Olson, Nicolas Matentzoglu et autres
Objectives: Demonstrate a methodology for improving discoverability of rare disease datasets by enriching source data with biological associations. Materials and Methods: We developed an extension of the Biolink semantic model to incorporate patient data and generated a knowledge graph (KG) comprising patient …
us
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey et autres
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 …
us, Ghana, cz, au, ca, at, es, fr, gb, nl, de
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Pablo Alarcón Moreno, Ian Braun, Emily Hartley, Daniel Olson et autres
Interoperability between clinical datasets is challenging due to, in part, the number of data models and vocabularies in use and the variety of implementations. Here we describe the first steps in an ongoing effort to achieve interoperability between two clinical datasets currently …
es, us, nl
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Accès ouvert
2022
preprint
OpenAlex
Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph E Flack et autres
Abstract There are thousands of distinct disease entities and concepts, each of which are known by different and sometimes contradictory names. The lack of a unified system for managing these entities poses a major challenge for both machines and humans that need …
us, ch, my, gb, fr, au, il, ca, lu
(code pays fourni par la source)
Accès ouvert
2020
article
OpenAlex
Ariana P. Mullin, Diane Corey, Emily C. Turner, Richard Liwski et autres
Interest in drug development for rare diseases has expanded dramatically since the Orphan Drug Act was passed in 1983, with 40% of new drug approvals in 2019 targeting orphan indications. However, limited quantitative understanding of natural history and disease progression hinders progress …
us
(code pays fourni par la source)