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Published in: Osteoporosis International 2/2014

01-02-2014 | Review

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

Authors: S. Lazarus, A. Zankl, E. L. Duncan

Published in: Osteoporosis International | Issue 2/2014

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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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Metadata
Title
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery
Authors
S. Lazarus
A. Zankl
E. L. Duncan
Publication date
01-02-2014
Publisher
Springer London
Published in
Osteoporosis International / Issue 2/2014
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-013-2443-1

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