Title |
Next-generation sequencing in childhood disorders
|
---|---|
Published in |
Archives of Disease in Childhood, October 2013
|
DOI | 10.1136/archdischild-2012-302881 |
Pubmed ID | |
Authors |
Ricardo Parolin Schnekenberg, Andrea H Németh |
Abstract |
Genetics has been revolutionised by recent technologies. The latest addition to these advances is next-generation sequencing, which is set to transform clinical diagnostics in every branch of medicine. In the research arena this has already been instrumental in identifying hundreds of novel genetic syndromes, making a molecular diagnosis possible for the first time in numerous refractory cases. However, the pace of change has left many clinicians bewildered by new terminology and the implications of next-generation sequencing for their clinical practice. The rapid developments have also left many diagnostic laboratories struggling to implement these new technologies with limited resources. This review explains the basic concepts of next-generation sequencing, gives examples of its role in clinically applied research and examines the challenges of its introduction into clinical practice. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 13% |
United Kingdom | 1 | 13% |
France | 1 | 13% |
United States | 1 | 13% |
Spain | 1 | 13% |
Germany | 1 | 13% |
India | 1 | 13% |
Unknown | 1 | 13% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 50% |
Practitioners (doctors, other healthcare professionals) | 2 | 25% |
Scientists | 1 | 13% |
Science communicators (journalists, bloggers, editors) | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 1 | 2% |
Australia | 1 | 2% |
Unknown | 64 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 11 | 17% |
Student > Bachelor | 11 | 17% |
Other | 10 | 15% |
Student > Master | 10 | 15% |
Researcher | 5 | 8% |
Other | 10 | 15% |
Unknown | 9 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 30 | 45% |
Agricultural and Biological Sciences | 11 | 17% |
Biochemistry, Genetics and Molecular Biology | 7 | 11% |
Immunology and Microbiology | 2 | 3% |
Materials Science | 2 | 3% |
Other | 6 | 9% |
Unknown | 8 | 12% |