Ingo Helbig

According to our database1, Ingo Helbig authored at least 9 papers between 2010 and 2023.

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Bibliography

2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Briefings Bioinform., September, 2023

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding.
Artif. Intell. Medicine, May, 2023

2022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care.
BMC Medical Informatics Decis. Mak., 2022

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

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

A Framework for Analysis, Ontological Evaluation, and Visualization in Preparation to Predictive Analytics in Pediatric Brain Tumor Research.
Proceedings of the IEEE International Conference on Bioinformatics and Biomedicine, 2020

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

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

2010
CNVineta: a data mining tool for large case-control copy number variation datasets.
Bioinform., 2010


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