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The impact of rare variation on gene expression across tissues

Author

Listed:
  • Xin Li

    (Stanford University)

  • Yungil Kim

    (Johns Hopkins University)

  • Emily K. Tsang

    (Stanford University
    Biomedical Informatics Program, Stanford University)

  • Joe R. Davis

    (Stanford University
    Stanford University)

  • Farhan N. Damani

    (Johns Hopkins University)

  • Colby Chiang

    (McDonnell Genome Institute, Washington University School of Medicine)

  • Gaelen T. Hess

    (Stanford University)

  • Zachary Zappala

    (Stanford University
    Stanford University)

  • Benjamin J. Strober

    (Johns Hopkins University)

  • Alexandra J. Scott

    (McDonnell Genome Institute, Washington University School of Medicine)

  • Amy Li

    (Stanford University)

  • Andrea Ganna

    (Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
    Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard)

  • Michael C. Bassik

    (Stanford University)

  • Jason D. Merker

    (Stanford University)

  • Ira M. Hall

    (McDonnell Genome Institute, Washington University School of Medicine
    Washington University School of Medicine
    Washington University School of Medicine)

  • Alexis Battle

    (Johns Hopkins University)

  • Stephen B. Montgomery

    (Stanford University
    Stanford University)

Abstract

The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

Suggested Citation

  • Xin Li & Yungil Kim & Emily K. Tsang & Joe R. Davis & Farhan N. Damani & Colby Chiang & Gaelen T. Hess & Zachary Zappala & Benjamin J. Strober & Alexandra J. Scott & Amy Li & Andrea Ganna & Michael C., 2017. "The impact of rare variation on gene expression across tissues," Nature, Nature, vol. 550(7675), pages 239-243, October.
    • Handle: RePEc:nat:nature:v:550:y:2017:i:7675:d:10.1038_nature24267
    DOI: 10.1038/nature24267
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    Cited by:

    1. Nava Ehsan & Bence M. Kotis & Stephane E. Castel & Eric J. Song & Nicholas Mancuso & Pejman Mohammadi, 2024. "Haplotype-aware modeling of cis-regulatory effects highlights the gaps remaining in eQTL data," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    2. Ting Fu & Kofi Amoah & Tracey W. Chan & Jae Hoon Bahn & Jae-Hyung Lee & Sari Terrazas & Rockie Chong & Sriram Kosuri & Xinshu Xiao, 2024. "Massively parallel screen uncovers many rare 3′ UTR variants regulating mRNA abundance of cancer driver genes," Nature Communications, Nature, vol. 15(1), pages 1-20, December.
    3. Fei He & Wei Wang & William B. Rutter & Katherine W. Jordan & Jie Ren & Ellie Taagen & Noah DeWitt & Deepmala Sehgal & Sivakumar Sukumaran & Susanne Dreisigacker & Matthew Reynolds & Jyotirmoy Halder , 2022. "Genomic variants affecting homoeologous gene expression dosage contribute to agronomic trait variation in allopolyploid wheat," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
    4. Matthew Tegtmeyer & Jatin Arora & Samira Asgari & Beth A. Cimini & Ajay Nadig & Emily Peirent & Dhara Liyanage & Gregory P. Way & Erin Weisbart & Aparna Nathan & Tiffany Amariuta & Kevin Eggan & Marzi, 2024. "High-dimensional phenotyping to define the genetic basis of cellular morphology," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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