Chapter title |
Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
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Chapter number | 16 |
Book title |
Retinal Degenerative Diseases
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Published in |
Advances in experimental medicine and biology, January 2014
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DOI | 10.1007/978-1-4614-3209-8_16 |
Pubmed ID | |
Book ISBNs |
978-1-4614-3208-1, 978-1-4614-3209-8
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Authors |
Stephen P Daiger, Sara J Bowne, Lori S Sullivan, Susan H Blanton, George M Weinstock, Daniel C Koboldt, Robert S Fulton, David Larsen, Peter Humphries, Marian M Humphries, Eric A Pierce, Rui Chen, Yumei Li, Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y, Stephen P. Daiger, Sara J. Bowne, Lori S. Sullivan, Susan H. Blanton, George M. Weinstock, Daniel C. Koboldt, Robert S. Fulton, Marian M. Humphries, Eric A. Pierce, Daiger, Stephen P., Bowne, Sara J., Sullivan, Lori S., Blanton, Susan H., Weinstock, George M., Koboldt, Daniel C., Fulton, Robert S., Larsen, David, Humphries, Peter, Humphries, Marian M., Pierce, Eric A., Chen, Rui, Li, Yumei |
Abstract |
The goal of our research is to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). For this purpose we established a cohort of more than 250 independently ascertained families with adRP in the Houston Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Affected members of each family were screened for disease-causing mutations in genes and gene regions that are commonly associated with adRP. By this approach, we detected mutations in 65 % of the families, leaving 85 families that are likely to harbor mutations outside of the "common" regions or in novel genes. Of these, 32 families were tested by several types of next-generation sequencing (NGS), including (a) targeted polymerase chain reaction (PCR) NGS, (b) whole exome NGS, and (c) targeted retinal-capture NGS. We detected mutations in 11 of these families (31 %) bringing the total detected in the adRP cohort to 70 %. Several large families have also been tested for linkage using Afymetrix single nucleotide polymorphism (SNP) arrays. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Nigeria | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 31 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 6 | 19% |
Researcher | 6 | 19% |
Student > Master | 3 | 10% |
Student > Bachelor | 2 | 6% |
Other | 2 | 6% |
Other | 7 | 23% |
Unknown | 5 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 9 | 29% |
Medicine and Dentistry | 7 | 23% |
Biochemistry, Genetics and Molecular Biology | 4 | 13% |
Nursing and Health Professions | 1 | 3% |
Business, Management and Accounting | 1 | 3% |
Other | 1 | 3% |
Unknown | 8 | 26% |