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Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
February 22, 2023
Deriving Meaningful Aspects of Health Related to Physical Activity in Chronic Disease: Concept Elicitation Using Machine Learning-Assisted Coding of Online Patient Conversations
Bill Byrom, Conrad Bessant, Fabrizio Smeraldi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization
Martha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
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August 7, 2024
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, et al.
Biorxiv : the Preprint Server for Biology
|
June 25, 2024
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, et al.
BMC Bioinformatics
|
March 23, 2025
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, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine
|
October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
HGG Advances
|
October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
February 22, 2023
Deriving Meaningful Aspects of Health Related to Physical Activity in Chronic Disease: Concept Elicitation Using Machine Learning-Assisted Coding of Online Patient Conversations
Bill Byrom, Conrad Bessant, Fabrizio Smeraldi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 13, 2024
Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization
Martha A Beckwith, Daniel Danis, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 7, 2024
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, et al.
Biorxiv : the Preprint Server for Biology
|
June 25, 2024
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, et al.
BMC Bioinformatics
|
March 23, 2025
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, et al.
European Journal of Human Genetics : EJHG
|
February 24, 2026
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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine
|
October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
HGG Advances
|
October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Daniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
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of 2