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The importance of phase information for human genomics

Nature Reviews Genetics volume 12, pages 215223 (2011) | Download Citation

Abstract

Contemporary sequencing studies often ignore the diploid nature of the human genome because they do not routinely separate or 'phase' maternally and paternally derived sequence information. However, many findings — both from recent studies and in the more established medical genetics literature — indicate that relationships between human DNA sequence and phenotype, including disease, can be more fully understood with phase information. Thus, the existing technological impediments to obtaining phase information must be overcome if human genomics is to reach its full potential.

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Acknowledgements

This work was supported, in part, by the following research grants: U19 AG023122-01, R01 MH078151-01A1,N01 MH22005, U01 DA024417-01, P50 MH081755-01 and UL1 RR025774, as well as the Price Foundation and Scripps Genomic Medicine. This work is the authors' sole responsibility and does not necessarily represent funding agencies' views.

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Affiliations

  1. Ryan Tewhey, Vikas Bansal, Ali Torkamani, Eric J. Topol and Nicholas J. Schork are at The Scripps Translational Science Institute, 3344 North Torrey Pines Road, Suite 300, La Jolla, California 92037, USA.

    • Ryan Tewhey
    • , Vikas Bansal
    • , Ali Torkamani
    • , Eric J. Topol
    •  & Nicholas J. Schork
  2. Ali Torkamani, Eric J. Topol and Nicholas J. Schork are also at the Department of Experimental Medicine, The Scripps Research Institute, 3344 North Torrey Pines Road, Suite 300, La Jolla, California 92037, USA.

    • Ali Torkamani
    • , Eric J. Topol
    •  & Nicholas J. Schork
  3. Vikas Bansal, Ali Torkamani, Eric J. Topol and Nicholas J. Schork are also at Scripps Health, 3344 North Torrey Pines Road, Suite 300, La Jolla, California 92037, USA.

    • Vikas Bansal
    • , Ali Torkamani
    • , Eric J. Topol
    •  & Nicholas J. Schork
  4. Ryan Tewhey is also at the Graduate Program, Division of Biological Sciences, The University of California, San Diego, California 92093, USA.

    • Ryan Tewhey

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The authors declare no competing financial interests.

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Correspondence to Nicholas J. Schork.

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https://doi.org/10.1038/nrg2950

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