Enhancing Patient Care in Rare Genetic Diseases: An HPO-based Phenotyping Pipeline-Reference-Cited by-同舟云学术

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Enhancing Patient Care in Rare Genetic Diseases: An HPO-based Phenotyping Pipeline

Published:2023-12-05 Issue: Volume:12 Page:2754-2760
ISSN:
Container-title:2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
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Author:

Xiao Yao¹,Enayati Moein²,Schaeferle Gavin M.²,Lanpher Brendan C.³,Klee Eric W.⁴,Ngufor Che⁵

Affiliation:

1. Mayo Clinic,Department of Quantitative Health Sciences,Rochester,MN,USA

2. Mayo Clinic,Kern Center for the Science of Health Care Delivery,Rochester,MN,USA

3. Mayo Clinic,Department of Clinical Genomics,Rochester,MN,USA

4. Mayo Clinic,Center for Individualized Medicine,Department of Quantitative Health Sciences,Rochester,MN,USA

5. Mayo Clinic,Department of Artificial Intelligence and Informatics,Rochester,MN,USA

Funder

Mayo Clinic

Publisher

IEEE

Link

http://xplorestaging.ieee.org/ielx7/10385250/10385251/10385978.pdf?arnumber=10385978

Reference13 articles.

1. Embedding research recruitment in a community resource e-prescribing system: lessons from an implementation study on Chicago’s South Side

2. Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

3. Clinical characteristics and prognostic factors for Crohn’s disease relapses using natural language processing and machine learning

4. The Human Phenotype Ontology in 2021

5. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

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