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Human genes lost and their functions found

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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.

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References

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

    Article  ADS  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    PubMed  PubMed Central  Google Scholar 

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

    Article  ADS  CAS  Google Scholar 

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

    Article  ADS  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

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

  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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  1. Robert M. Plenge is in the Translational Medicine Department, Merck, Boston, Massachusetts 02115, USA.,

    Robert M. Plenge

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  1. Robert M. Plenge
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Correspondence to Robert M. Plenge.

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The author declares competing financial interests. See go.nature.com/2p1srjx for details.

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Plenge, R. Human genes lost and their functions found. Nature 544, 171–172 (2017). https://doi.org/10.1038/544171a

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