Kyle Kai-How Farh

Vice President and Distinguished Scientist, Artificial Intelligence
Illumina Ltd.
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Kyle Farh, MD, PhD, is VP & Distinguished Scientist has been at Illumina since 2015 and leads the Artificial Intelligence lab at Illumina. The AI lab has been responsible to a large extent for the adoption of deep learning in clinical variant interpretation, including the pioneering SpliceAI and PrimateAI-3D algorithms, two widely used AI tools for clinical interpretation of human genetic variants.
He holds a BS in computer science from Rice University, and MD/PhD degrees from Harvard Medical School and the Massachusetts Institute of Technology in molecular biology. He completed his internship and residency in pediatrics and clinical genetics at Boston Children’s Hospital and his postdoctoral fellowship with Mark Daly and Brad Bernstein at the Broad Institute.


 

Leveraging WGS Data in Drug Discovery and Development

Large scale human genetics cohorts, comprising hundreds of thousands of individuals with medical record data, are now at the leading edge of modern drug discovery pipeline. This strategy aims to improve upon the current low rate of success in pivotal clinical trials by demonstrating evidence of efficacy directly in humans, as opposed to the traditional strategy of testing in mice and other model organisms. Here we demonstrate the use of the latest deep learning technologies to improve interpretation of both protein-coding and noncoding genetic variation in large human genetic cohorts, leading to novel insights for genetic risk prediction and drug target discovery.