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Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Author

Listed:
  • Elizabeth T. Cirulli

    (Helix)

  • Simon White

    (Helix)

  • Robert W. Read

    (Desert Research Institute
    Renown Institute of Health Innovation)

  • Gai Elhanan

    (Desert Research Institute
    Renown Institute of Health Innovation)

  • William J. Metcalf

    (Desert Research Institute
    Renown Institute of Health Innovation)

  • Francisco Tanudjaja

    (Helix)

  • Donna M. Fath

    (Helix)

  • Efren Sandoval

    (Helix)

  • Magnus Isaksson

    (Helix)

  • Karen A. Schlauch

    (Desert Research Institute
    Renown Institute of Health Innovation)

  • Joseph J. Grzymski

    (Desert Research Institute
    Renown Institute of Health Innovation)

  • James T. Lu

    (Helix)

  • Nicole L. Washington

    (Helix)

Abstract

Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF

Suggested Citation

  • Elizabeth T. Cirulli & Simon White & Robert W. Read & Gai Elhanan & William J. Metcalf & Francisco Tanudjaja & Donna M. Fath & Efren Sandoval & Magnus Isaksson & Karen A. Schlauch & Joseph J. Grzymski, 2020. "Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts," Nature Communications, Nature, vol. 11(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-14288-y
    DOI: 10.1038/s41467-020-14288-y
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    Cited by:

    1. Asmundur Oddsson & Patrick Sulem & Gardar Sveinbjornsson & Gudny A. Arnadottir & Valgerdur Steinthorsdottir & Gisli H. Halldorsson & Bjarni A. Atlason & Gudjon R. Oskarsson & Hannes Helgason & Henriet, 2023. "Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    2. Marcin Kierczak & Nima Rafati & Julia Höglund & Hadrien Gourlé & Valeria Lo Faro & Daniel Schmitz & Weronica E. Ek & Ulf Gyllensten & Stefan Enroth & Diana Ekman & Björn Nystedt & Torgny Karlsson & Ås, 2022. "Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    3. Jung Yeon Lee & Myeong-Kyu Kim & Wonkuk Kim, 2020. "Robust Linear Trend Test for Low-Coverage Next-Generation Sequence Data Controlling for Covariates," Mathematics, MDPI, vol. 8(2), pages 1-14, February.
    4. Mihail Halachev & Viktoria-Eleni Gountouna & Alison Meynert & Gannie Tzoneva & Alan R. Shuldiner & Colin A. Semple & James F. Wilson, 2024. "Regionally enriched rare deleterious exonic variants in the UK and Ireland," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    5. Remo Monti & Pia Rautenstrauch & Mahsa Ghanbari & Alva Rani James & Matthias Kirchler & Uwe Ohler & Stefan Konigorski & Christoph Lippert, 2022. "Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes," Nature Communications, Nature, vol. 13(1), pages 1-16, December.

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