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Human genes lost and their functions found

Individuals who lack a functional copy of a gene — gene knockouts — can reveal the gene's role. Most knockout research has used model organisms, but now a comprehensive catalogue of human knockouts is in sight. See Letter p.235

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Figure 1: A road map for identifying and studying the absence of human genes in individuals.


  1. 1.

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  1. 1

    Saleheen, D. et al. Nature 544, 235–239 (2017).

    ADS  CAS  Article  Google Scholar 

  2. 2

    Lek, M. et al. Nature 536, 285–291 (2016).

    CAS  Article  Google Scholar 

  3. 3

    Saleheen, D. et al. Eur. J. Epidemiol. 24, 329–338 (2009).

    PubMed  PubMed Central  Google Scholar 

  4. 4

    Narasimhan, V. M. et al. Science 352, 474–477 (2016).

    ADS  CAS  Article  Google Scholar 

  5. 5

    Sulem, P. et al. Nature Genet. 47, 448–452 (2015).

    ADS  CAS  Article  Google Scholar 

  6. 6

    Steinberg, S. et al. Nature Genet. 47, 445–447 (2015).

    CAS  Article  Google Scholar 

  7. 7

    The Lp-PLA2 Studies Collaboration. Lancet 375, 1536–1544 (2010).

  8. 8

    The TG and HDL Working Group of the Exome Sequencing Project. N. Engl. J. Med. 371, 22–31 (2014).

  9. 9

    Jørgensen, A. B., Frikke-Schmidt, R., Nordestgaard, B. G. & Tybjærg-Hansen, A. N. Engl. J. Med. 371, 32–41 (2014)

    Article  Google Scholar 

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Correspondence to Robert M. Plenge.

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Plenge, R. Human genes lost and their functions found. Nature 544, 171–172 (2017).

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