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

Lazarus, S., Zankl, A. and Duncan, E. L. (2013) Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25 2: 407-422. doi:10.1007/s00198-013-2443-1


Author Lazarus, S.
Zankl, A.
Duncan, E. L.
Title Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery
Journal name Osteoporosis International   Check publisher's open access policy
ISSN 0937-941X
1433-2965
Publication date 2013-08-01
Year available 2013
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1007/s00198-013-2443-1
Volume 25
Issue 2
Start page 407
End page 422
Total pages 16
Place of publication London, United Kingdom
Publisher Springer
Collection year 2014
Language eng
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.
Keyword Massively parallel sequencing
Next-generation sequencing
Skeletal dysplasia
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Publishe online ahead of print 1 August 2013.

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: UQ Centre for Clinical Research Publications
UQ Diamantina Institute - Open Access Collection
Official 2014 Collection
 
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Citation counts: TR Web of Science Citation Count  Cited 6 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 8 times in Scopus Article | Citations
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Created: Wed, 11 Dec 2013, 10:47:11 EST by Roheen Gill on behalf of UQ Centre for Clinical Research