Mutation rates and rare genetic variation
We develop theory and methods to understand mutation rates and to better utilize rare variation in genetic analyses.
We study how the genetic component of human phenotypic variation and disease arises from mutation, selection, and population history.
Explore our researchResearch
Research overviewNatural Selection and the Genetic Architecture of Complex Traits
Complex-trait variation arises from the interplay of mutation, genetic drift, and natural selection. Biobank GWAS enable analyses of genetic architecture across large collections of traits and diseases.
Mapping Functional Effects to Selection
A major goal of this effort is to identify when and how functional assays, sequence-based predictors, and population-genetic evidence should be combined into a joint framework.
News
All newsHuman Genome Sciences PhD track launches at Yale
The Koch Lab is recruiting and accepting graduate students through Yale's Human Genome Sciences and Computational Biology and Bioinformatics PhD tracks.
Selected recent publications
- 2026
Inference of elevated mutation rates and variant effects using 700k exomes
Prathitha Kar, Mikhail A. Moldovan, Jeremy Guez, …, Evan M. Koch, Vladimir B. Seplyarskiy, Shamil Sunyaev
- 2024
Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traits
Evan M. Koch, Noah J Connally, Nikolas Baya, …, Alex Bloemendal, Shamil Sunyaev
- 2023
A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription
Vladimir B. Seplyarskiy, Evan M. Koch, Daniel J. Lee, Joshua S. Lichtman, Harding H. Luan, Shamil Sunyaev
- 2021
Maintenance of complex trait variation: classic theory and modern data
Evan M. Koch, Shamil Sunyaev
Led by Evan M. Koch, the lab is part of Yale's Department of Genetics and the Yale Center for Genomic Health.
New Haven, Connecticut100 College StreetNew Haven, CT 06510