Christopher J Mungall
Overview
Explore the profile of Christopher J Mungall including associated specialties, affiliations and a list of published articles.
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144
Citations
13839
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Recent Articles
1.
Chimirri L, Caufield J, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, et al.
medRxiv
. 2025 Mar;
PMID: 40061308
Background: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the...
2.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
Genetics
. 2025 Mar;
PMID: 40048704
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
3.
Hegde H, Vendetti J, Goutte-Gattat D, Caufield J, Graybeal J, Harris N, et al.
Database (Oxford)
. 2025 Jan;
2025.
PMID: 39841813
Ontologies and knowledge graphs (KGs) are general-purpose computable representations of some domain, such as human anatomy, and are frequently a crucial part of modern information systems. Most of these structures...
4.
Vestito L, Jacobsen J, Walker S, Cipriani V, Harris N, Haendel M, et al.
NPJ Genom Med
. 2024 Dec;
9(1):65.
PMID: 39695184
Whole genome sequencing has transformed rare disease research; however, 50-80% of rare disease patients remain undiagnosed after such testing. Regular reanalysis can identify new diagnoses, especially in newly discovered disease-gene...
5.
Toro S, Anagnostopoulos A, Bello S, Blumberg K, Cameron R, Carmody L, et al.
J Biomed Semantics
. 2024 Oct;
15(1):19.
PMID: 39415214
Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in an accurate and computable form. However, their construction and...
6.
Danis D, Bamshad M, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody L, et al.
HGG Adv
. 2024 Oct;
6(1):100371.
PMID: 39394689
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual,...
7.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
bioRxiv
. 2024 Sep;
PMID: 39345458
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
8.
Amusat O, Hegde H, Mungall C, Giannakou A, Byers N, Gunter D, et al.
Database (Oxford)
. 2024 Sep;
2024.
PMID: 39331731
Advanced omics technologies and facilities generate a wealth of valuable data daily; however, the data often lack the essential metadata required for researchers to find, curate, and search them effectively....
9.
Niyonkuru E, Caufield J, Carmody L, Gargano M, Toro S, Whetzel P, et al.
medRxiv
. 2024 Sep;
PMID: 39228707
Structured representations of clinical data can support computational analysis of individuals and cohorts, and ontologies representing disease entities and phenotypic abnormalities are now commonly used for translational research. The Medical...
10.
Reese J, Chimirri L, Bridges Y, Danis D, Caufield J, Wissink K, et al.
medRxiv
. 2024 Aug;
PMID: 39108510
Large language models (LLMs) show promise in supporting differential diagnosis, but their performance is challenging to evaluate due to the unstructured nature of their responses. To assess the current capabilities...