Title |
Copy number variants are a common cause of non-syndromic hearing loss
|
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Published in |
Genome Medicine, May 2014
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DOI | 10.1186/gm554 |
Pubmed ID | |
Authors |
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, Christina M Sloan, Kathy L Frees, Amy E Weaver, Erika T Clark, Carla J Nishimura, E Ann Black-Ziegelbein, Richard J H Smith |
Abstract |
Copy number variants (CNVs) are a well-recognized cause of genetic disease; however, methods for their identification are often gene-specific, excluded as 'routine' in screens of genetically heterogeneous disorders, and not implemented in most next-generation sequencing pipelines. For this reason, the contribution of CNVs to non-syndromic hearing loss (NSHL) is most likely under-recognized. We aimed to incorporate a method for CNV identification as part of our standard analysis pipeline and to determine the contribution of CNVs to genetic hearing loss. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Uruguay | 1 | 33% |
France | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | <1% |
Unknown | 106 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 18 | 17% |
Student > Master | 16 | 15% |
Researcher | 13 | 12% |
Student > Postgraduate | 10 | 9% |
Student > Doctoral Student | 9 | 8% |
Other | 18 | 17% |
Unknown | 23 | 21% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 29 | 27% |
Medicine and Dentistry | 24 | 22% |
Agricultural and Biological Sciences | 15 | 14% |
Environmental Science | 2 | 2% |
Nursing and Health Professions | 2 | 2% |
Other | 4 | 4% |
Unknown | 31 | 29% |