Title |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
|
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Published in |
Journal of Medical Genetics, November 2010
|
DOI | 10.1136/jmg.2010.082552 |
Pubmed ID | |
Authors |
Edgar A Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J Allen, Weibin Zhou, Rannar Airik, Toby W Hurd, Amiya K Ghosh, Matthias T Wolf, Bernd Hoppe, Thomas J Neuhaus, Detlef Bockenhauer, David V Milford, Neveen A Soliman, Corinne Antignac, Sophie Saunier, Colin A Johnson, Friedhelm Hildebrandt, the GPN Study Group |
Abstract |
Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 3% |
Germany | 2 | 2% |
Czechia | 1 | <1% |
Australia | 1 | <1% |
Unknown | 108 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 31 | 27% |
Student > Ph. D. Student | 17 | 15% |
Professor | 8 | 7% |
Professor > Associate Professor | 7 | 6% |
Student > Master | 7 | 6% |
Other | 22 | 19% |
Unknown | 24 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 37 | 32% |
Medicine and Dentistry | 23 | 20% |
Biochemistry, Genetics and Molecular Biology | 20 | 17% |
Neuroscience | 3 | 3% |
Unspecified | 1 | <1% |
Other | 4 | 3% |
Unknown | 28 | 24% |