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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Author

Listed:
  • Danish Saleheen

    (Perelman School of Medicine at the University of Pennsylvania
    Center for Non-Communicable Diseases)

  • Pradeep Natarajan

    (Center for Genomic Medicine, Harvard Medical School
    Broad Institute of Harvard and MIT)

  • Irina M. Armean

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Wei Zhao

    (Perelman School of Medicine at the University of Pennsylvania)

  • Asif Rasheed

    (Center for Non-Communicable Diseases)

  • Sumeet A. Khetarpal

    (Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania)

  • Hong-Hee Won

    (Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center)

  • Konrad J. Karczewski

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Anne H. O’Donnell-Luria

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School
    Boston Children’s Hospital)

  • Kaitlin E. Samocha

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Benjamin Weisburd

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Namrata Gupta

    (Broad Institute of Harvard and MIT)

  • Mozzam Zaidi

    (Center for Non-Communicable Diseases)

  • Maria Samuel

    (Center for Non-Communicable Diseases)

  • Atif Imran

    (Center for Non-Communicable Diseases)

  • Shahid Abbas

    (Faisalabad Institute of Cardiology)

  • Faisal Majeed

    (Center for Non-Communicable Diseases)

  • Madiha Ishaq

    (Center for Non-Communicable Diseases)

  • Saba Akhtar

    (Center for Non-Communicable Diseases)

  • Kevin Trindade

    (Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania)

  • Megan Mucksavage

    (Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania)

  • Nadeem Qamar

    (National Institute of Cardiovascular Disorders)

  • Khan Shah Zaman

    (National Institute of Cardiovascular Disorders)

  • Zia Yaqoob

    (National Institute of Cardiovascular Disorders)

  • Tahir Saghir

    (National Institute of Cardiovascular Disorders)

  • Syed Nadeem Hasan Rizvi

    (National Institute of Cardiovascular Disorders)

  • Anis Memon

    (National Institute of Cardiovascular Disorders)

  • Nadeem Hayyat Mallick

    (Punjab Institute of Cardiology)

  • Mohammad Ishaq

    (Karachi Institute of Heart Diseases)

  • Syed Zahed Rasheed

    (Karachi Institute of Heart Diseases)

  • Fazal-ur-Rehman Memon

    (Red Crescent Institute of Cardiology)

  • Khalid Mahmood

    (The Civil Hospital)

  • Naveeduddin Ahmed

    (Liaquat National Hospital)

  • Ron Do

    (Icahn School of Medicine at Mount Sinai
    The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai)

  • Ronald M. Krauss

    (Children’s Hospital Oakland Research Institute)

  • Daniel G. MacArthur

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Stacey Gabriel

    (Broad Institute of Harvard and MIT)

  • Eric S. Lander

    (Broad Institute of Harvard and MIT)

  • Mark J. Daly

    (Broad Institute of Harvard and MIT
    Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School)

  • Philippe Frossard

    (Center for Non-Communicable Diseases)

  • John Danesh

    (MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
    Wellcome Trust Sanger Institute)

  • Daniel J. Rader

    (Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania
    University of Pennsylvania)

  • Sekar Kathiresan

    (Center for Genomic Medicine, Harvard Medical School
    Broad Institute of Harvard and MIT)

Abstract

By sequencing the exomes of 10,503 individuals living in Pakistan, the authors identify rare predicted loss-of-function mutations that are estimated to knock out genes and correlate these mutations with a broad range of phenotypes, providing a framework for a human knockout project.

Suggested Citation

  • Danish Saleheen & Pradeep Natarajan & Irina M. Armean & Wei Zhao & Asif Rasheed & Sumeet A. Khetarpal & Hong-Hee Won & Konrad J. Karczewski & Anne H. O’Donnell-Luria & Kaitlin E. Samocha & Benjamin We, 2017. "Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity," Nature, Nature, vol. 544(7649), pages 235-239, April.
    • Handle: RePEc:nat:nature:v:544:y:2017:i:7649:d:10.1038_nature22034
    DOI: 10.1038/nature22034
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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. Juan Lorenzo Rodriguez-Flores & Shareef Khalid & Neelroop Parikshak & Asif Rasheed & Bin Ye & Manav Kapoor & Joshua Backman & Farshid Sepehrband & Silvio Alessandro Di Gioia & Sahar Gelfman & Tanima D, 2024. "NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    3. Margaret Sunitha Selvaraj & Xihao Li & Zilin Li & Akhil Pampana & David Y. Zhang & Joseph Park & Stella Aslibekyan & Joshua C. Bis & Jennifer A. Brody & Brian E. Cade & Lee-Ming Chuang & Ren-Hua Chung, 2022. "Whole genome sequence analysis of blood lipid levels in >66,000 individuals," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
    4. Rozaimi Mohamad Razali & Juan Rodriguez-Flores & Mohammadmersad Ghorbani & Haroon Naeem & Waleed Aamer & Elbay Aliyev & Ali Jubran & Andrew G. Clark & Khalid A. Fakhro & Younes Mokrab, 2021. "Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes," Nature Communications, Nature, vol. 12(1), pages 1-16, December.

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