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Tomi Pastinen

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Tomi Pastinen

Director, Center for Pediatric Genomic Medicine, Children’s Mercy Kansas City
Adjunct Professor, Department of Human Genetics

Email: tpastinen@cmh.edu

Children’s Mercy Hospital
2401 Gillham Rd
Kansas City MO 64108

Dr. Pastinen has been the Director of the Center for Pediatric Genomic Medicine (CPGM) at Children’s Mercy Hospital, Kansas City, MO since 2017. Dr. Pastinen joined Children’s Mercy from McGill University. He held the Canada Research Chair from 2007 to 2017 and has a significant track record of academic achievement. He has authored over 120 peer-reviewed publications, including papers in top-tier journals Cell and Nature Genetics. Prior to joining Children’s Mercy, he led the epigenome mapping center at McGill as part of the International Human Epigenome Consortium, which provides maps of genome function to the global research community. Dr. Pastinen is leading Genomic Answers for Kids, a foundational initiative for future genomic research at Children’s Mercy that aims to learn from 30,000 children with genetic conditions.

Recent Publications

  • Chen, X, Baker, D, Dolzhenko, E, Devaney, JM, Noya, J, Berlyoung, AS et al.. Genome-wide profiling of highly similar paralogous genes using HiFi sequencing. Nat Commun. 2025;16 (1):2340. doi: 10.1038/s41467-025-57505-2. PubMed PMID:40057485 PubMed Central PMC11890787.
  • Berrios, C, Basey, T, Bradley-Ewing, A, Daniels-Young, S, Lewis, D, Feldman, K et al.. Black community member perceptions and ethics recommendations on epigenomic research. Clin Epigenetics. 2025;17 (1):33. doi: 10.1186/s13148-025-01840-0. PubMed PMID:39987106 PubMed Central PMC11847333.
  • Wojcik, MH, Clark, RD, Elias, AF, Genetti, CA, Madden, JA, Simpson, D et al.. Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti. Res Sq. 2025; :. doi: 10.21203/rs.3.rs-5811417/v1. PubMed PMID:39975911 PubMed Central PMC11838753.
  • Dishuck, PC, Munson, KM, Lewis, AP, Dougherty, ML, Underwood, JG, Harvey, WT et al.. Structural variation, selection, and diversification of the NPIP gene family from the human pangenome. bioRxiv. 2025; :. doi: 10.1101/2025.02.04.636496. PubMed PMID:39975192 PubMed Central PMC11838601.
  • Means, JC, Martinez-Bengochea, AL, Louiselle, DA, Nemechek, JM, Perry, JM, Farrow, EG et al.. Rapid and scalable personalized ASO screening in patient-derived organoids. Nature. 2025;638 (8049):237-243. doi: 10.1038/s41586-024-08462-1. PubMed PMID:39843740 PubMed Central PMC11798851.
  • Lansdon, LA, Yoo, B, Keskus, A, Pushel, I, Bi, C, Ahmad, T et al.. Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing. medRxiv. 2024; :. doi: 10.1101/2024.11.05.24316078. PubMed PMID:39802758 PubMed Central PMC11722507.
  • Jeong, H, Dishuck, PC, Yoo, D, Harvey, WT, Munson, KM, Lewis, AP et al.. Structural polymorphism and diversity of human segmental duplications. Nat Genet. 2025;57 (2):390-401. doi: 10.1038/s41588-024-02051-8. PubMed PMID:39779957 PubMed Central PMC11821543.
  • Holt, JM, Harting, J, Chen, X, Baker, D, Saunders, CT, Kronenberg, Z et al.. StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data. bioRxiv. 2024; :. doi: 10.1101/2024.12.10.627527. PubMed PMID:39713404 PubMed Central PMC11661245.
  • Eurén, A, Lynch, K, Lindfors, K, Parikh, H, Koletzko, S, Liu, E et al.. Risk of celiac disease autoimmunity is modified by interactions between CD247 and environmental exposures. Sci Rep. 2024;14 (1):25463. doi: 10.1038/s41598-024-75496-w. PubMed PMID:39462122 PubMed Central PMC11567144.
  • Smail, C, Ge, B, Keever-Keigher, MR, Schwendinger-Schreck, C, Cheung, WA, Johnston, JJ et al.. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024;15 (1):8196. doi: 10.1038/s41467-024-52407-1. PubMed PMID:39294130 PubMed Central PMC11411080.
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