Review

Osteoporosis International

, Volume 25, Issue 2, pp 407-422

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

  • S. LazarusAffiliated withUniversity of Queensland, UQ Centre for Clinical ResearchUniversity of Queensland Diamantina InstituteDepartment of Endocrinology, Royal Brisbane and Women’s Hospital
  • , A. ZanklAffiliated withUniversity of Queensland, UQ Centre for Clinical Research
  • , E. L. DuncanAffiliated withUniversity of Queensland, UQ Centre for Clinical ResearchUniversity of Queensland Diamantina InstituteDepartment of Endocrinology, Royal Brisbane and Women’s Hospital Email author 

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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.

Keywords

Massively parallel sequencing Next-generation sequencing Skeletal dysplasia