| Title |
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
|
|---|---|
| Published in |
Neuron, December 2012
|
| DOI | 10.1016/j.neuron.2012.12.008 |
| Pubmed ID | |
| Authors |
Joseph D. Buxbaum, Mark J. Daly, Bernie Devlin, Thomas Lehner, Kathryn Roeder, Matthew W. State, The Autism Sequencing Consortium |
| Abstract |
Research during the past decade has seen significant progress in the understanding of the genetic architecture of autism spectrum disorders (ASDs), with gene discovery accelerating as the characterization of genomic variation has become increasingly comprehensive. At the same time, this research has highlighted ongoing challenges. Here we address the enormous impact of high-throughput sequencing (HTS) on ASD gene discovery, outline a consensus view for leveraging this technology, and describe a large multisite collaboration developed to accomplish these goals. Similar approaches could prove effective for severe neurodevelopmental disorders more broadly. |
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X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | 33% |
| United Kingdom | 3 | 13% |
| Saudi Arabia | 2 | 8% |
| New Zealand | 1 | 4% |
| Slovakia | 1 | 4% |
| Italy | 1 | 4% |
| Unknown | 8 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 17 | 71% |
| Scientists | 3 | 13% |
| Practitioners (doctors, other healthcare professionals) | 2 | 8% |
| Science communicators (journalists, bloggers, editors) | 2 | 8% |
Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 7 | 2% |
| Netherlands | 4 | 1% |
| Canada | 3 | 1% |
| Portugal | 2 | <1% |
| Germany | 2 | <1% |
| Brazil | 2 | <1% |
| Luxembourg | 1 | <1% |
| Japan | 1 | <1% |
| Italy | 1 | <1% |
| Other | 4 | 1% |
| Unknown | 258 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 67 | 24% |
| Student > Ph. D. Student | 43 | 15% |
| Professor | 27 | 9% |
| Student > Master | 26 | 9% |
| Professor > Associate Professor | 26 | 9% |
| Other | 51 | 18% |
| Unknown | 45 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 85 | 30% |
| Medicine and Dentistry | 41 | 14% |
| Neuroscience | 36 | 13% |
| Biochemistry, Genetics and Molecular Biology | 22 | 8% |
| Psychology | 11 | 4% |
| Other | 29 | 10% |
| Unknown | 61 | 21% |