Title |
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
|
---|---|
Published in |
Genome Medicine, June 2013
|
DOI | 10.1186/gm461 |
Pubmed ID | |
Authors |
James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, Matthew N Bainbridge, Shalini Jhangiani, Christian J Buhay, Christie L Kovar, Min Wang, Alicia C Hawes, Jeffrey G Reid, Christine Eng, Donna M Muzny, Richard A Gibbs |
Abstract |
The debate regarding the relative merits of whole genome sequencing (WGS) versus exome sequencing (ES) centers around comparative cost, average depth of coverage for each interrogated base, and their relative efficiency in the identification of medically actionable variants from the myriad of variants identified by each approach. Nevertheless, few genomes have been subjected to both WGS and ES, using multiple next generation sequencing platforms. In addition, no personal genome has been so extensively analyzed using DNA derived from peripheral blood as opposed to DNA from transformed cell lines that may either accumulate mutations during propagation or clonally expand mosaic variants during cell transformation and propagation. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 7 | 32% |
United Kingdom | 5 | 23% |
Montenegro | 1 | 5% |
Mexico | 1 | 5% |
Germany | 1 | 5% |
France | 1 | 5% |
Netherlands | 1 | 5% |
Unknown | 5 | 23% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 11 | 50% |
Members of the public | 8 | 36% |
Practitioners (doctors, other healthcare professionals) | 2 | 9% |
Science communicators (journalists, bloggers, editors) | 1 | 5% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 3% |
Germany | 1 | <1% |
Norway | 1 | <1% |
Hong Kong | 1 | <1% |
Italy | 1 | <1% |
China | 1 | <1% |
United Kingdom | 1 | <1% |
Unknown | 101 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 27 | 25% |
Student > Ph. D. Student | 16 | 15% |
Other | 15 | 14% |
Student > Master | 14 | 13% |
Student > Bachelor | 5 | 5% |
Other | 20 | 18% |
Unknown | 13 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 44 | 40% |
Biochemistry, Genetics and Molecular Biology | 21 | 19% |
Medicine and Dentistry | 18 | 16% |
Neuroscience | 3 | 3% |
Nursing and Health Professions | 1 | <1% |
Other | 4 | 4% |
Unknown | 19 | 17% |