WEHI Wednesday Seminar hosted by Professor Melanie Bahlo
 

Dr Jiru Pin – Senior Research Officer and Dr Pin Sun – Research Officer

Bahlo Laboratory – Genetics and Gene Regulation division, WEHI

AI Image-Omics for Genetic Discovery of the Human Spine and Spinal Cord

 

Davis Auditorium

Join via SLIDO enter code #WEHIWednesday

Including Q&A session
 

Population-based biobanks provide many novel discovery opportunities to understand the genetic architecture of complex human traits. The UK Biobank is unique in the breadth of its available data, which includes multiple medical imaging modalities, genomics, and health-related outcomes.

In this talk, we present two applications leveraging automated deep learning frameworks to process three imaging modalities from the UK Biobank. In the first application, we provide proof of concept that a combination of body MRI and DXA allows for the characterization of the spinal column and rib anatomy. This phenotyping identified numerical variations in rib and vertebrae count, which we then use to discover novel rare-variant genetic associations in NR6A1 and VRTN . In the second application, we use the UK Biobank brain MRI to examine the shape metrics of the upper spinal cord (C1-C3) to conduct the largest genome-wide association study of the spinal cord to date. This reveals the genetic architecture of the sensory-motor axis, recapitulating many known as well as novel genetic associations, including a modifier of GFAP, a neurodegeneration biomarker. Both applications benefited from AI applications to biomedical image analysis, which allowed the segmentation, annotation, and multimodal integration to facilitate discovery in large-scale imaging datasets.

All welcome!