Genomic & Clinical Data Analysis
Decision Support Systems for rare diseases.
Our lab is interested in the analysis of health care data to provide personalised care. We jointly analyse genetics, medical imaging and text data to develop decision support systems for diagnosis, prognosis and treatment. Our focus has mostly been on rare eye diseases but our methodology is widely applicable to rare genetic diseases.Our lab currently works across the following organisations:
Genetic Landscape of Rare Disease PatientsAnalysing a database of 6000+ genetic patients with rare diseases collected s...
Alignment in Complex Genomic RegionsDeveloping artificial chromosomes reference panels for alignment in complex r...
BayesConformPredLeveraging conformal prediction with estimated uncertainty for disease detect...
EyeNomalyAnomaly detection in medical images using unsupervised learning
Doctor in the LoopImprove learning efficiency by closing the loop
QualifEyeUnsupervised representation learning approach for image quality evaluation
SynthEyeCreating synthetic retinal image augmentations with deep learning
Eye-archical Tissue SegmentationUsing a hierarchical probabilistic framework to identify retinal tissue layers
Eye2GeneDecision support systems for genetic diagnosis of inherited retinal diseases.
EyeConDecision support systems for keratoconus and other corneal ectasias.
Phenopolis Genomic BrowserA genetic browser than integrates with the Human Phenotype Ontology.
KeraScreenDetection of subclinical keratoconus from corneal imaging
EyeNoteExtracting genetic information from clinical notes
Nikolas PontikosPrincipal Investigator
William WoofPostdoc Medical Imaging and AI
Ismail MoghulPostdoc Bioinformatics and AI
Howard MaileMPhil Medical Imaging And AI
Anita SzaboBioinformatics Research Assistant
Advaith Yoga VeturiHonorary Research Assistant Medical Imaging and AI
Quang NguyenMRes/PhD student
Dr Olivia LiHonorary Clinical Research Fellow
Tianyi LiaoHonorary Research Assistant, Genetics of Human Disease
Nathaniel KabiriHonorary Research Assistant, Biochemistry
Yichen LiuAI Research Assistant
Lynn KandakjiPhD Medical Imaging And AI
Biraja Prasad GhoshalHonorary postdoctoral fellow
Siyin LiuPhD/Clinical Research Fellow
We are always eager for hard-working & motivated people to come and work with us.
If you're interested in joining us, please send Nikolas Pontikos a quick email with a CV and personal statement