| Title |
Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
|
|---|---|
| Published in |
PLOS ONE, July 2012
|
| DOI | 10.1371/journal.pone.0041902 |
| Pubmed ID | |
| Authors |
Koji M. Nishiguchi, Carlo Rivolta |
| Abstract |
Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this study we estimate the proportion of these individuals within the general population, via the analyses of data from whole-genome sequencing. |
Mendeley readers
The data shown below were compiled from readership statistics for 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 2% |
| Unknown | 48 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 20% |
| Student > Ph. D. Student | 9 | 18% |
| Student > Bachelor | 5 | 10% |
| Other | 4 | 8% |
| Student > Master | 4 | 8% |
| Other | 9 | 18% |
| Unknown | 8 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 13 | 27% |
| Agricultural and Biological Sciences | 10 | 20% |
| Medicine and Dentistry | 8 | 16% |
| Computer Science | 2 | 4% |
| Engineering | 2 | 4% |
| Other | 6 | 12% |
| Unknown | 8 | 16% |