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

Lazarus, S., Zankl, A., & Duncan, E.L. (2014) Next-generation sequencing: A frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25(2), pp. 407-422.

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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. © International Osteoporosis Foundation and National Osteoporosis Foundation 2013.

Impact and interest:

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6 citations in Web of Science®

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ID Code: 94201
Item Type: Journal Article
Refereed: Yes
Keywords: Massively parallel sequencing, Next-generation sequencing, Skeletal dysplasia, DNA fragment, genomic DNA, oligonucleotide, RNA, single stranded DNA, allele, autosomal dominant inheritance, bone dysplasia, DNA fragmentation, DNA library, DNA strand, DNA template, exome, gene sequence, genetic analysis, human, human genome project, inheritance, monogenic disorder, osteogenesis imperfecta, osteoporosis, phenotypic variation, polymerase chain reaction, priority journal, publication, rare disease, recessive inheritance, review, X chromosome, Y chromosome, chromosome map, genetic association, genetic predisposition, genetics, high throughput sequencing, mutation, procedures, syndrome, Bone Diseases, Developmental, Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Humans
DOI: 10.1007/s00198-013-2443-1
ISSN: 0937-941X
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2013 International Osteoporosis Foundation and National Osteoporosis Foundation
Deposited On: 23 Mar 2016 02:17
Last Modified: 24 Mar 2016 03:48

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