Author

Sabrina Toro

University of North Carolina at Chapel HillORCID 0000-0002-4142-7153Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Organism:human· 1 Approach:large language model· 1 Approach:machine learning (classical)· 1 Organism:multiple species· 1

Frequent Co-Authors

Chris MungalliD· 2 shared Leigh CarmodyiD· 2 shared Melissa Anne HaendeliD· 2 shared Nicole VasilevskyiD· 2 shared Peter N. RobinsoniD· 2 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersBioinformatics

Chris MungallORCID

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Author profile →

3 papers

Recent·Most cited

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, James P. Balhoff, Meghan A. Balk, Yvonne M. Bradford, Yasemin Bridges, Tiffany J. Callahan, Harry Caufield, Alayne Cuzick, Leigh Carmody, Anita R. Caron, Vinícius de Souza, , David Osumi-Sutherland

The paper introduces uPheno, a framework for cross-species phenomics integration by harmonizing phenotype data across species and ontologies.

Genetics · Mar 1, 2025Peer-reviewedBioinformatics

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista K. Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, , Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease

Enock Niyonkuru, John Harry Caufield, Leigh Carmody, Michael A. Gargano, Sabrina Toro, Trish Whetzel, Hannah Blau, Mauricio Soto, Elena Casiraghi, Leonardo Chimirri, Justin Reese, Giorgio Valentini, Melissa Anne Haendel, Chris Mungall, Peter N. Robinson

AutoMAxO uses LLMs to semi-automate MAxO curation for rare diseases, identifying 538 confirmed disease-treatment annotations from 4,918 medical abstracts.

medRxiv · Aug 22, 2024 · PreprintGenetic & Genomic Medicine