Peter N. Robinson

Orcid: 0000-0002-0736-9199

According to our database1, Peter N. Robinson authored at least 82 papers between 2004 and 2024.

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Bibliography

2024
An evaluation of GPT models for phenotype concept recognition.
BMC Medical Informatics Decis. Mak., December, 2024

Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data.
Data, April, 2024

Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning.
Bioinform., March, 2024

Computing Minimal Boolean Models of Gene Regulatory Networks.
J. Comput. Biol., February, 2024

Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.
Int. J. Medical Informatics, 2024

CurateGPT: A flexible language-model assisted biocuration tool.
CoRR, 2024

SPIREX: Improving LLM-based relation extraction from RNA-focused scientific literature using graph machine learning.
Proceedings of Workshops at the 50th International Conference on Very Large Data Bases, 2024

Initial achievements in relation extraction from RNA-focused scientific papers.
Proceedings of the 32nd Symposium of Advanced Database Systems, 2024

Fine-Tuning of Conditional Transformers Improves the Generation of Functionally Characterized Proteins.
Proceedings of the 17th International Joint Conference on Biomedical Engineering Systems and Technologies, 2024

2023
The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.
J. Biomed. Semant., December, 2023

Term-BLAST-like alignment tool for concept recognition in noisy clinical texts.
Bioinform., December, 2023

The promises of large language models for protein design and modeling.
Frontiers Bioinform., May, 2023

An expectation-maximization framework for comprehensive prediction of isoform-specific functions.
Bioinform., April, 2023

A method for comparing multiple imputation techniques: A case study on the U.S. national COVID cohort collaborative.
J. Biomed. Informatics, March, 2023

Ontologizing health systems data at scale: making translational discovery a reality.
npj Digit. Medicine, 2023

GRAPE for fast and scalable graph processing and random-walk-based embedding.
Nat. Comput. Sci., 2023

RNA-KG: An ontology-based knowledge graph for representing interactions involving RNA molecules.
CoRR, 2023

An Open-Source Knowledge Graph Ecosystem for the Life Sciences.
CoRR, 2023

KG-Hub - Building and Exchanging Biological Knowledge Graphs.
CoRR, 2023

Degree-Normalization Improves Random-Walk-Based Embedding Accuracy in PPI Graphs.
Proceedings of the Bioinformatics and Biomedical Engineering, 2023

2022
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.
Nucleic Acids Res., 2022

Deep phenotyping: symptom annotation made simple with SAMS.
Nucleic Acids Res., 2022

PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.
J. Biomed. Informatics, 2022

Demonstrating an approach for evaluating synthetic geospatial and temporal epidemiologic data utility: results from analyzing >1.8 million SARS-CoV-2 tests in the United States National COVID Cohort Collaborative (N3C).
J. Am. Medical Informatics Assoc., 2022

Ontologizing Health Systems Data at Scale: Making Translational Discovery a Reality.
CoRR, 2022

Tell Bennet, Christopher Chute, Peter DeWitt, Kenneth Gersing, Andrew Girvin, Melissa Haendel, Jeremy Harper, Janos Hajagos, Stephanie Hong, Emily Pfaff, Jane Reusch, Corneliu Antoniescu, Kimberly Robaski: A Methodological Framework for the Comparative Evaluation of Multiple Imputation Methods: Multiple Imputation of Race, Ethnicity and Body Mass Index in the U.S. National COVID Cohort Collaborative.
CoRR, 2022

Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Briefings Bioinform., 2022

ParSMURF-NG: A Machine Learning High Performance Computing System for the Analysis of Imbalanced Big Omics Data.
Proceedings of the Artificial Intelligence Applications and Innovations. AIAI 2022 IFIP WG 12.5 International Workshops, 2022

2021
KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response.
Patterns, 2021

The Human Phenotype Ontology in 2021.
Nucleic Acids Res., 2021

Abdominal Computed Tomography Imaging Findings in Hospitalized COVID-19 Patients: A Year-Long Experience and Associations Revealed by Explainable Artificial Intelligence.
J. Imaging, 2021

The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment.
J. Am. Medical Informatics Assoc., 2021

GraPE: fast and scalable Graph Processing and Embedding.
CoRR, 2021

Het-node2vec: second order random walk sampling for heterogeneous multigraphs embedding.
CoRR, 2021

HEMDAG: a family of modular and scalable hierarchical ensemble methods to improve Gene Ontology term prediction.
Bioinform., 2021

PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology.
Bioinform., 2021

Reclassification of Infectious Disease in the Mondo Disease Ontology.
Proceedings of the International Conference on Biomedical Ontologies 2021 co-located with the Workshop on Ontologies for the Behavioural and Social Sciences (OntoBess 2021) as part of the Bolzano Summer of Knowledge (BOSK 2021), 2021

COVID-19 Mortality Prediction among Patients with Cancer Using a Large National Cohort.
Proceedings of the AMIA 2021, American Medical Informatics Association Annual Symposium, San Diego, CA, USA, October 30, 2021, 2021

2020
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res., 2020

Explainable Machine Learning for Early Assessment of COVID-19 Risk Prediction in Emergency Departments.
IEEE Access, 2020

Mondo Disease Ontology: Harmonizing Disease Concepts Across the World (short paper).
Proceedings of the 11th International Conference on Biomedical Ontologies (ICBO) joint with the 10th Workshop on Ontologies and Data in Life Sciences (ODLS) and part of the Bolzano Summer of Knowledge (BoSK 2020), 2020

2019
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery.
npj Digit. Medicine, 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res., 2019

Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
Database J. Biol. Databases Curation, 2019

Medical Action Ontology (MAxO).
Proceedings of the 10th International Conference on Biomedical Ontology (ICBO 2019), Buffalo, New York, USA, July 30, 2019

2017
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.
Nucleic Acids Res., 2017

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Nucleic Acids Res., 2017

The Human Phenotype Ontology in 2017.
Nucleic Acids Res., 2017

Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.
BMC Bioinform., 2017

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.
Bioinform., 2017

Aligning the Human Phenotype and Mammalian Phenotype Ontology using Dead Simple Ontology Design Patterns.
Proceedings of the 8th International Conference on Biomedical Ontology (ICBO 2017), Newcastle-upon-Tyne, United Kingdom, September 13th, 2017

Ensembling Descendant Term Classifiers to Improve Gene - Abnormal Phenotype Predictions.
Proceedings of the Computational Intelligence Methods for Bioinformatics and Biostatistics, 2017

2016
The digital revolution in phenotyping.
Briefings Bioinform., 2016

Enhancing the Human Phenotype Ontology for Use by the Layperson.
Proceedings of the Joint International Conference on Biological Ontology and BioCreative, 2016

2015
Capturing domain knowledge from multiple sources: the rare bone disorders use case.
J. Biomed. Semant., 2015

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls.
Bioinform., 2015

IMSEQ - a fast and error aware approach to immunogenetic sequence analysis.
Bioinform., 2015

Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora.
Database J. Biol. Databases Curation, 2015

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.
Database J. Biol. Databases Curation, 2015

A Hierarchical Ensemble Method for DAG-Structured Taxonomies.
Proceedings of the Multiple Classifier Systems - 12th International Workshop, 2015

Prediction of Human Gene - Phenotype Associations by Exploiting the Hierarchical Structure of the Human Phenotype Ontology.
Proceedings of the Bioinformatics and Biomedical Engineering, 2015

2014
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res., 2014

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
BMC Bioinform., 2014

The influence of disease categories on gene candidate predictions from model organism phenotypes.
J. Biomed. Semant., 2014

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
Bioinform., 2014

2013
PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
Database J. Biol. Databases Curation, 2013

Integrating the Human Phenotype Ontology into HeTOP Terminology-Ontology Server.
Proceedings of the MEDINFO 2013, 2013

2012
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis.
BMC Medical Informatics Decis. Mak., 2012

Bayesian ontology querying for accurate and noise-tolerant semantic searches.
Bioinform., 2012

2011
Exact score distribution computation for ontological similarity searches.
BMC Bioinform., 2011

Improving ontologies by automatic reasoning and evaluation of logical definitions.
BMC Bioinform., 2011

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Bioinform., 2011

Model-based gene set analysis for Bioconductor.
Bioinform., 2011

2010
Microindel detection in short-read sequence data.
Bioinform., 2010

2009
Exact Score Distribution Computation for Similarity Searches in Ontologies.
Proceedings of the Algorithms in Bioinformatics, 9th International Workshop, 2009

2008
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.
Int. J. Bioinform. Res. Appl., 2008

Ontologizer 2.0 - a multifunctional tool for GO term enrichment analysis and data exploration.
Bioinform., 2008

2007
Improved detection of overrepresentation of Gene-Ontology annotations with parent-child analysis.
Bioinform., 2007

2006
Binary State Pattern Clustering: A Digital Paradigm for Class and Biomarker Discovery in Gene Microarray Studies of Cancer.
J. Comput. Biol., 2006

HotSwap for bioinformatics: A STRAP tutorial.
BMC Bioinform., 2006

An Improved Statistic for Detecting Over-Represented Gene Ontology Annotations in Gene Sets.
Proceedings of the Research in Computational Molecular Biology, 2006

2004
Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology
Bioinform., 2004


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