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Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

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Abstract

In the last decade, huge breakthroughs in genetics—driven by new technology and different statistical approaches—have resulted in a plethora of new disease genes identified for both common and rare diseases. Massive parallel sequencing, commonly known as next-generation sequencing, is the latest advance in genetics, and has already facilitated the discovery of the molecular cause of many monogenic disorders. This article describes this new technology and reviews how this approach has been used successfully in patients with skeletal dysplasias. Moreover, this article illustrates how the study of rare diseases can inform understanding and therapeutic developments for common diseases such as osteoporosis.

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Acknowledgments

SL is funded through a National Health and Medical Research Council (Australia) Postgraduate Scholarship (APP1056015) and a Royal Brisbane and Women’s Hospital Foundation Ph.D. scholarship. The authors gratefully acknowledge the help of Dr. Brooke Gardiner in preparing this manuscript.

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Authors and Affiliations

  1. University of Queensland, UQ Centre for Clinical Research, Herston, Brisbane, QLD, 4029, Australia

    S. Lazarus, A. Zankl & E. L. Duncan

  2. University of Queensland Diamantina Institute, Woolloongabba, Brisbane, QLD, 4102, Australia

    S. Lazarus & E. L. Duncan

  3. Department of Endocrinology, Royal Brisbane and Women’s Hospital, Herston, Brisbane, QLD, 4029, Australia

    S. Lazarus & E. L. Duncan

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  1. S. Lazarus
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  2. A. Zankl
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  3. E. L. Duncan
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Correspondence to E. L. Duncan.

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Lazarus, S., Zankl, A. & Duncan, E.L. Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporos Int 25, 407–422 (2014). https://doi.org/10.1007/s00198-013-2443-1

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