Monica C Munoz-Torres
Overview
Explore the profile of Monica C Munoz-Torres including associated specialties, affiliations and a list of published articles.
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39
Citations
2758
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Recent Articles
1.
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...
2.
Clark T, Caufield H, Parker J, Al Manir S, Amorim E, Eddy J, et al.
bioRxiv
. 2024 Nov;
PMID: 39484409
Biomedical research and clinical practice are in the midst of a transition toward significantly increased use of artificial intelligence (AI) and machine learning (ML) methods. These advances promise to enable...
3.
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...
4.
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,...
5.
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...
6.
Danis D, Bamshad M, Bridges Y, Cacheiro P, Carmody L, Chong J, et al.
medRxiv
. 2024 Jun;
PMID: 38854034
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.
Harris N, Fields C, Hokamp K, Just J, Khetani R, Maia J, et al.
F1000Res
. 2023 Dec;
12:1568.
PMID: 38076297
The 24th annual Bioinformatics Open Source Conference ( BOSC 2023) was part of the 2023i conference on Intelligent Systems for Molecular Biology and the European Conference on Computational Biology (ISMB/ECCB...
8.
Putman T, Schaper K, Matentzoglu N, Rubinetti V, Alquaddoomi F, Cox C, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D938-D949.
PMID: 38000386
Bridging the gap between genetic variations, environmental determinants, and phenotypic outcomes is critical for supporting clinical diagnosis and understanding mechanisms of diseases. It requires integrating open data at a global...
9.
Carmody L, Gargano M, Toro S, Vasilevsky N, Adam M, Blau H, et al.
Med
. 2023 Nov;
4(12):913-927.e3.
PMID: 37963467
Background: Navigating the clinical literature to determine the optimal clinical management for rare diseases presents significant challenges. We introduce the Medical Action Ontology (MAxO), an ontology specifically designed to organize...
10.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
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...