Peining Li

Dr. Peining Li is a Professor of Genetics at Yale School of Medicine, where she serves as Director of the Cytogenetics Laboratory and Co-Director of the Fellowship in Laboratory Genetics and Genomics. Her primary affiliations include the Department of Genetics, Yale Center for Genomic Health, and Yale Ventures. She leads a research program focused on structural and functional characterization of human chromosome abnormalities using advanced molecular techniques.

Her research interests span:

• Cytogenetics and chromosome aberration analysis
• Genomic diagnostics using microarray and sequencing technologies
• Cancer genomics with focus on hepatocellular carcinoma
• Reproductive genetics including pregnancy loss mechanisms

Recent publications demonstrate her work in pediatric genetic diagnostics, NGS concordance studies, stem cell applications, and ring chromosome characterization. Her lab provides clinical services for diverse specimen types including blood, amniotic fluid, and tumor samples.