Postdoctoral Fellow
Medical College of Wisconsin
Jiawei Wu, PhD in Computer Science from Marquette University, is a Postdoctoral Fellow in the Department of Pediatrics at the Medical College of Wisconsin, where he works under the supervision of Dr. Xiaowu Gai.
Wu is a pioneering researcher at the intersection of artificial intelligence and clinical genetics, dedicated to implementing AI solutions that transform the interpretation of genetic variants. His work focuses on developing generative AI systems to assist clinicians in rapidly completing complex genetic analyses, reviewing literature, and reducing labor-intensive manual work. His ultimate goal is to enable rapid understanding of genetic variant information, facilitate the preliminary determination of variant pathogenicity, and utilize AI-assisted literature summarization for initial diagnostic support.
His current work centers on resolving Variants of Uncertain Significance (VUS), a major bottleneck in clinical genomics. He is the lead author of VUS.Life, a novel framework that uses semantic embeddings to predict variant pathogenicity. This approach transforms complex variant annotations into natural language, which is then converted into high-dimensional vector representations. In this "semantic space," pathogenic variants cluster together, allowing the model to predict the pathogenicity of unknown variants by measuring their proximity to established ones. Validated on well-characterized genes such as BRCA1, BRCA2, and FBN1, his method has demonstrated exceptional predictive accuracy exceeding 96%.