Publications by authors named "Julius Jacobsen"

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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S L Graefe, Viktor Bily, Julius O B Jacobsen

Am J Hum Genet· January 2026

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LinkML: An Open Data Modeling Framework.
Sierra A T Moxon, Harold Solbrig, Nomi L Harris, Patrick Kalita, Mark A Miller, Julius O B Jacobsen

Gigascience· December 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Julius O B Jacobsen

Genetics· October 2025

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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.
Justin T Reese, Leonardo Chimirri, Yasemin Bridges, Daniel Danis, J Harry Caufield, Julius Ob Jacobsen

medRxiv· May 2025

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The Unified Phenotype Ontology : a framework for cross-species integrative phenomics.
Nicolas Matentzoglu, Susan M Bello, Ray Stefancsik, Sarah M Alghamdi, Anna V Anagnostopoulos, Julius O B Jacobsen

Genetics· March 2025

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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily, Julius O B Jacobsen

medRxiv· March 2025

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Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Yasemin Bridges, Vinicius de Souza, Katherina G Cortes, Melissa Haendel, Nomi L Harris, Julius O B Jacobsen

BMC Bioinformatics· March 2025

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Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database.
Emma F Magavern, Maia Megase, Jack Thompson, Gabriel Marengo, Julius Jacobsen

PLoS Med· March 2025

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Towards a standard benchmark for phenotype-driven variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Yasemin Bridges, Vinicius de Souza, Katherina G Cortes, Melissa Haendel, Nomi L Harris, Julius Ob Jacobsen

bioRxiv· February 2025

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Rare disease gene association discovery in the 100,000 Genomes Project.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius O B Jacobsen, Gavin Arno

Nature· February 2025

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Julius O B Jacobsen

HGG Adv· January 2025

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Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.
Martha A Beckwith, Daniel Danis, Yasemin Bridges, Julius O B Jacobsen, Damian Smedley

Genet Med· January 2025

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Efficient reinterpretation of rare disease cases using Exomiser.
Letizia Vestito, Julius O B Jacobsen, Susan Walker, Valentina Cipriani, Nomi L Harris

NPJ Genom Med· December 2024

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The Unified Phenotype Ontology (uPheno): A framework for cross-species integrative phenomics.
Nicolas Matentzoglu, Susan M Bello, Ray Stefancsik, Sarah M Alghamdi, Anna V Anagnostopoulos, Julius O B Jacobsen

bioRxiv· September 2024

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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Julius O B Jacobsen

medRxiv· May 2024

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Improving prenatal diagnosis through standards and aggregation.
Michael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica Giordano, Harrison Brand

Prenat Diagn· April 2024

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Julius O B Jacobsen

Hum Genomics· April 2024

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The Human Phenotype Ontology in 2024: phenotypes around the world.
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Julius O B Jacobsen

Nucleic Acids Res· January 2024

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The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species.
Tim E Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Julius O B Jacobsen

Nucleic Acids Res· January 2024

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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno

medRxiv· December 2023

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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Julius O B Jacobsen

medRxiv· August 2023

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Phenopacket-tools: Building and validating GA4GH Phenopackets.
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith

PLoS One· May 2023

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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Peter N Robinson, Damian Smedley

Brief Bioinform· September 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran

Nat Biotechnol· June 2022

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