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Employment (2)

Institute for Biomedical Informatics – University Hospital Cologne: Cologne, DE

Employment
Source: Self-asserted source
Adam S.L. Graefe

Charité - Universitätsmedizin Berlin: Berlin, DE

Employment
Source: Self-asserted source
Adam S.L. Graefe

Works (8)

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

2025-03-06 | Preprint
DOI: 10.1101/2025.03.05.25323315
Contributors: Lauren Rekerle; Daniel Danis; Filip Rehburg; Adam SL Graefe; Viktor Bily; Andres Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X Chong; Evan Connelly et al.
Source: check_circle
Crossref

An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

Scientific Data
2025-02-08 | Journal article
DOI: 10.1038/s41597-025-04558-z
Contributors: Adam S. L. Graefe; Miriam R. Hübner; Filip Rehburg; Steffen Sander; Sophie A. I. Klopfenstein; Samer Alkarkoukly; Ana Grönke; Annic Weyersberg; Daniel Danis; Jana Zschüntzsch et al.
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Crossref

An Ontology-Based Rare Disease Common Data Model for international registry use, HL7 FHIR, and GA4GH Phenopackets (v2.0.0.dev0)

2024-09-30 | Dataset | Author
DOI: 10.6084/m9.figshare.26509150
SOURCE-WORK-ID:

26509150
Contributors: Adam S.L. Graefe; Sophie AI Klopfenstein; Daniel Danis; Peter N Robinson; Jana Zschüntzsch; Susanna Wiegand; Peter Kühnen; Oya Beyan; Sylvia Thun; Elisabeth Félicité Nyoungui et al.
Source: check_circle
figshare

Considerations on the basis of medical reasoning for the use in AI applications

Frontiers in Medicine
2024-09-18 | Journal article
DOI: 10.3389/fmed.2024.1451649
Part of ISSN: 2296-858X
Contributors: Adamantios Koumpis; Adam S. L. Graefe
Source: Self-asserted source
Adam S.L. Graefe

How Interoperability Can Enable Artificial Intelligence in Clinical Applications

Studies in Health Technology and Informatics
2024-08-22 | Book chapter
DOI: 10.3233/shti240485
Part of ISBN: 9781643685335
Part of ISSN: 0926-9630
Part of ISSN: 1879-8365
Contributors: Filip Rehburg; Adam Graefe; Miriam Hübner; Sylvia Thun
Source: Self-asserted source
Adam S.L. Graefe

Review of Key Elements in Developing a Common Data Model for Rare Diseases: Identifying Common Success Factors

2024-08-22 | Book chapter
DOI: 10.3233/SHTI240672
Contributors: Adam S.L. Graefe; Filip Rehburg; Miriam Hübner; Sylvia Thun; Oya Beyan
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Crossref

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

2024-07-22 | Preprint
DOI: 10.1101/2024.07.22.24310816
Contributors: Justin T Reese; Leonardo Chimirri; Yasemin Bridges; Daniel Danis; J Harry Caufield; Kyran Wissink; Julie A McMurry; Adam SL Graefe; Elena Casiraghi; Giorgio Valentini et al.
Source: check_circle
Crossref

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

2024-05-29 | Preprint
DOI: 10.1101/2024.05.29.24308104
Contributors: Daniel Danis; Michael J Bamshad; Yasemin Bridges; Pilar Cacheiro; Leigh C Carmody; Jessica X Chong; Ben Coleman; Raymond Dalgleish; Peter J Freeman; Adam S L Graefe et al.
Source: check_circle
Crossref
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