pinned
Knowledge graphs & ML for immune disease classification
Using knowledge graphs, machine learning, and patient data to uncover patterns in complex biomedical datasets and improve understanding and classification of inborn errors of immunity and inflammatory diseases such as IBD.
knowledge graphs machine learning graph machine learning databases LLM APIs IEI IBD
Joint work across Oxford (CHG / Uhlig Group, with co-supervisor Calliope Dendrou at the Kennedy Institute) and UKE with Prof. Samuel Huber (I. Medical Clinic) and co-supervisor Prof. Frank Ückert (Applied Medical Informatics): connecting structured biomedical knowledge with patient-scale data so classification of inborn errors of immunity and inflammatory disease is more precise and clinically useful.
// people
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Holm Uhlig
supervisor · Professor of Paediatric Gastroenterology; Director, Centre for Human Genetics
Oxford · CHG · Uhlig Group
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Samuel Huber
supervisor · Professor; Clinic Director, I. Department of Medicine
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Calliope Dendrou
co-supervisor · Associate Professor in Clinical Pathology and Inflammation
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Frank Ückert
co-supervisor · Professor of Medical Informatics; Director, Institute for Applied Medical Informatics
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Ahmad Al-Shaibi
Research specialist; former Uhlig Group member
Oxford · TGU · Uhlig Group
// relevant papers
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interesting
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Bousfiha A.A., Jeddane L., Moundir A., Poli M.C., Aksentijevich I., Cunningham-Rundles C., Hambleton S., Klein C., Morio T., Picard C., Puel A., Rezaei N., Seppänen M., Somech R., Su H.C., Sullivan K.E., Torgerson T.R., Tangye S.G., Meyts I.
Journal of Human Immunity
Bedside-facing IUIS phenotypic decision trees for 559 IEIs (67 novel monogenic defects, 2 phenocopies) — the clinical classification backbone for structuring IEI knowledge graphs and machine-assisted disease classification.
2025 cited 133 -
interesting
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease
Bolton C., Smillie C.S., Pandey S., Elmentaite R., Wei G., Argmann C., Aschenbrenner D., James K.R., McGovern D., Macchi M., Cho J.H., Shouval D.S., Kammermeier J., Koletzko S., Bagalopal K., Capitani M., Cavounidis A., Pires E., Weidinger C., McCullagh J., Arkwright P.D., Haller W., Siegmund B., Peters L., Jostins L., Travis S., Anderson C.A., Snapper S.B., Klein C., Schadt E.E., Uhlig H.H., et al.
Gastroenterology
Pathway- and cell-type–aware taxonomy of monogenic IBD — a structured classification resource that underpins knowledge-graph modelling of rare intestinal inflammatory disease.
2021 cited 94