Title |
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
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Published in |
Orphanet Journal of Rare Diseases, January 2012
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DOI | 10.1186/1750-1172-7-8 |
Pubmed ID | |
Authors |
Isabelle Audo, Kinga M Bujakowska, Thierry Léveillard, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aurore Germain, Aline Antonio, Christelle Michiels, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Shomi S Bhattacharya, Christina Zeitz |
Abstract |
Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direct Sanger sequencing of known genes. However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
Germany | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Scientists | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | <1% |
Brazil | 1 | <1% |
South Africa | 1 | <1% |
United Kingdom | 1 | <1% |
Denmark | 1 | <1% |
Unknown | 151 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 35 | 22% |
Student > Ph. D. Student | 26 | 17% |
Student > Master | 17 | 11% |
Student > Bachelor | 13 | 8% |
Other | 12 | 8% |
Other | 29 | 19% |
Unknown | 24 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 41 | 26% |
Biochemistry, Genetics and Molecular Biology | 36 | 23% |
Medicine and Dentistry | 33 | 21% |
Neuroscience | 5 | 3% |
Computer Science | 3 | 2% |
Other | 8 | 5% |
Unknown | 30 | 19% |