Osteoporosis International

, Volume 25, Issue 2, pp 407–422

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


DOI: 10.1007/s00198-013-2443-1

Cite this article as:
Lazarus, S., Zankl, A. & Duncan, E.L. Osteoporos Int (2014) 25: 407. doi:10.1007/s00198-013-2443-1


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.


Massively parallel sequencingNext-generation sequencingSkeletal dysplasia

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2013

Authors and Affiliations

  1. 1.University of QueenslandUQ Centre for Clinical ResearchBrisbaneAustralia
  2. 2.University of Queensland Diamantina InstituteBrisbaneAustralia
  3. 3.Department of EndocrinologyRoyal Brisbane and Women’s HospitalBrisbaneAustralia