Luke O’Connor, Ph.D.

Assistant Professor, Harvard Medical School

SFARI Investigator Website

Luke Jen O’Connor is an assistant professor in the Department of Biomedical Informatics at Harvard Medical School. His research involves the development of statistical and algorithmic methods to understand the genetic basis of complex traits. Previously, he has studied the relationship between rare and common genetic variation, the relationship between different traits, the effect of negative selection on complex trait architecture and the contribution of de novo mutations to autism. His current research interests also include the application of artificial intelligence to genetic data and the development of algorithms which leverage shared genetics between distant relatives.

Funded Projects

Functionally informed model for de novo coding mutations in autism

Awarded: 2025
Award Type: Data Analysis

SFARI Funded Publications

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p. Weiner D.J., Ling E., Erdin S., Tai D.J.C., Yadav R., Grove J., Fu J.M., Nadig A., Carey C.E., Baya N., Bybjerg-Grauholm J., iPSCYH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta S., Macosko E.Z., Sebat J., O'Connor L., Hougaard D.M., Børglum A.D., Talkowski M., McCarroll S., Robinson E.

Research Highlight

Polygenic architecture of rare coding variation across 400,000 exomes. Weiner D.J., Nadig A., Jagadeesh K.A., Dey K.K., Neale B.M., Robinson E., Karczewski K.J., O'Connor L.