Publications

Research publications

  1. 2026

    Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection

    Martin Jinye Zhang, Arun Durvasula, Colby Chiang, Evan M. Koch, …, Shamil Sunyaev, Alkes L. Price

    Nature GeneticsArticle
  2. 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

    bioRxivPreprint
  3. 2026

    Integrating 730,947 exome sequences with clinical literature improves gene discovery

    Jeremy Guez, Julia K. Goodrich, Mikhail A. Moldovan, …, Evan M. Koch, …, Kaitlin E. Samocha, Konrad J. Karczewski

    MedrxivPreprint
  4. 2025

    Hotspots of human mutation point to clonal expansions in spermatogonia

    Vladimir B. Seplyarskiy, Mikhail A. Moldovan, Evan M. Koch, Prathitha Kar, Matthew D. C. Neville, Raheleh Rahbari, Shamil Sunyaev

    NatureArticle
  5. 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

    bioRxivPreprint
  6. 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

    Nature GeneticsArticle
  7. 2023

    Mutation rates and adaptive variation among the clinically dominant clusters of Mycobacterium abscessus

    Nicoletta Commins, Mark R. Sullivan, Kerry McGowen, Evan M. Koch, Eric J. Rubin, Maha Farhat

    Proceedings of the National Academy of SciencesArticle
  8. 2023

    Recurrent mutation in the ancestry of a rare variant

    John Wakeley, Wai-Tong Louis Fan, Evan M. Koch, Shamil Sunyaev

    GeneticsArticle

Reviews & perspectives

  1. 2024

    Deciphering the impact of genomic variation on function

    Writing group (ordered by contribution), J Engreitz, Heather A. Lawson, …, Evan M. Koch, …, Jay Shendure, Vikram Agarwal

    NatureReview
  2. 2023

    A biology-aware mutation rate model for human germline

    Evan M. Koch, Vladimir Seplyarskiy, Shamil R Sunyaev

    Nature GeneticsPerspective
  3. 2021
    Frontiers in GeneticsReview