Title |
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
|
---|---|
Published in |
Cell, March 2017
|
DOI | 10.1016/j.cell.2017.03.005 |
Pubmed ID | |
Authors |
Teri A. Manolio, Douglas M. Fowler, Lea M. Starita, Melissa A. Haendel, Daniel G. MacArthur, Leslie G. Biesecker, Elizabeth Worthey, Rex L. Chisholm, Eric D. Green, Howard J. Jacob, Howard L. McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S. Williams, Gregory M. Cooper, Nancy J. Cox, Gail E. Herman, Stephen Kingsmore, Cecilia Lo, Cathleen Lutz, Calum A. MacRae, Robert L. Nussbaum, Jose M. Ordovas, Erin M. Ramos, Peter N. Robinson, Wendy S. Rubinstein, Christine Seidman, Barbara E. Stranger, Haoyi Wang, Monte Westerfield, Carol Bult |
Abstract |
Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 19 | 30% |
United Kingdom | 4 | 6% |
Australia | 3 | 5% |
France | 3 | 5% |
Spain | 2 | 3% |
India | 2 | 3% |
Argentina | 2 | 3% |
Poland | 1 | 2% |
Cameroon | 1 | 2% |
Other | 6 | 9% |
Unknown | 21 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 30 | 47% |
Scientists | 27 | 42% |
Practitioners (doctors, other healthcare professionals) | 6 | 9% |
Science communicators (journalists, bloggers, editors) | 1 | 2% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 1 | <1% |
Norway | 1 | <1% |
Italy | 1 | <1% |
India | 1 | <1% |
United Kingdom | 1 | <1% |
Unknown | 180 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 40 | 22% |
Student > Ph. D. Student | 38 | 21% |
Other | 24 | 13% |
Student > Master | 14 | 8% |
Student > Bachelor | 11 | 6% |
Other | 33 | 18% |
Unknown | 25 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 49 | 26% |
Agricultural and Biological Sciences | 40 | 22% |
Medicine and Dentistry | 30 | 16% |
Neuroscience | 8 | 4% |
Computer Science | 4 | 2% |
Other | 18 | 10% |
Unknown | 36 | 19% |