Marc Hanauer
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View article: The Orphanet Nomenclature of rare diseases: a standard terminology for improved patient recognition and data interoperability
The Orphanet Nomenclature of rare diseases: a standard terminology for improved patient recognition and data interoperability Open
Although individually uncommon, rare diseases (RD) affect an estimated 300 million people worldwide. Establishing a public health approach to RD requires counting diseases and affected patients. However, RD are under-represented in medical…
View article: Privacy-Preserving Linkage of Distributed Pseudonymised Datasets in a Virtual European Rare Disease Platform
Privacy-Preserving Linkage of Distributed Pseudonymised Datasets in a Virtual European Rare Disease Platform Open
Secondary use of data for research purposes is especially important in rare diseases (RD), since, per definition, data are sparse. The European Joint Programme on Rare Diseases (EJP RD) aims at developing an RD infrastructure which support…
View article: The Human Phenotype Ontology in 2024: phenotypes around the world
The Human Phenotype Ontology in 2024: phenotypes around the world Open
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 seman…
View article: Building Expertise on FAIR Through Evolving Bring Your Own Data (BYOD) Workshops: Describing the Data, Software, and Management-focused Approaches and Their Evolution
Building Expertise on FAIR Through Evolving Bring Your Own Data (BYOD) Workshops: Describing the Data, Software, and Management-focused Approaches and Their Evolution Open
Since 2014, “Bring Your Own Data” workshops (BYODs) have been organised to inform people about the process and benefits of making resources Findable, Accessible, Interoperable, and Reusable (FAIR, and the FAIRification process). The BYOD w…
View article: Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report Open
View article: Building expertise on FAIR through evolving Bring Your Own Data (BYOD) workshops: describing the data, software, and management-focused approaches and their evolution
Building expertise on FAIR through evolving Bring Your Own Data (BYOD) workshops: describing the data, software, and management-focused approaches and their evolution Open
This preprint describes an effort to instruct people on the benefits and the process of making resources FAIR through Bring Your Own Data (BYOD) workshops. This work describes how the BYODs, which we have organised and participated in sinc…
View article: Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report Open
Rare diseases (RD) have a prevalence of not more than 1/2000 in the European population, and are characterised by the difficulty of obtaining a correct and timely diagnosis. According to Orphanet, 72,5% of RD have a genetic origin although…
View article: Mondo: Unifying diseases for the world, by the world
Mondo: Unifying diseases for the world, by the world Open
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 h…
View article: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Open
View article: Enabling FAIR Discovery of Rare Disease Digital Resources
Enabling FAIR Discovery of Rare Disease Digital Resources Open
Background: Integration of heterogenous resources is key for Rare Disease research. Within the EJP RD, common Application Programming Interface specifications are proposed for discovery of resources and data records. This is not sufficient…
View article: The Human Phenotype Ontology in 2021
The Human Phenotype Ontology in 2021 Open
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide st…
View article: Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Open
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. …
View article: D8.2 Documentation Of The Tools For The Data Manipulation And Standard Conversions In The Rare-Disease Field
D8.2 Documentation Of The Tools For The Data Manipulation And Standard Conversions In The Rare-Disease Field Open
This document describes tools for the data manipulation and standard conversions in the rare-disease field. It describes a standard process to make rare disease data more FAIR compliant, services that support FAIRification, and a standardi…
View article: Harmonising phenomics information for a better interoperability in the rare disease field
Harmonising phenomics information for a better interoperability in the rare disease field Open