Title |
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting
|
---|---|
Published in |
Genome Medicine, May 2012
|
DOI | 10.1186/gm347 |
Pubmed ID | |
Authors |
David K Crockett, Perry G Ridge, Andrew R Wilson, Elaine Lyon, Marc S Williams, Scott P Narus, Julio C Facelli, Joyce A Mitchell |
Abstract |
Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for uncertain or novel gene variants in an objective manner. Here, complementary predictors for missense gene variants were incorporated into a weighted Consensus framework that includes calculated reference intervals from known disease outcomes. Data visualization for clinical reporting is also discussed. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 3 | 33% |
United States | 2 | 22% |
France | 1 | 11% |
Germany | 1 | 11% |
Unknown | 2 | 22% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 4 | 44% |
Members of the public | 4 | 44% |
Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | 9% |
Belgium | 2 | 4% |
Canada | 1 | 2% |
Unknown | 45 | 85% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 17 | 32% |
Other | 7 | 13% |
Student > Ph. D. Student | 7 | 13% |
Student > Master | 5 | 9% |
Professor > Associate Professor | 3 | 6% |
Other | 8 | 15% |
Unknown | 6 | 11% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 18 | 34% |
Biochemistry, Genetics and Molecular Biology | 9 | 17% |
Medicine and Dentistry | 7 | 13% |
Computer Science | 6 | 11% |
Psychology | 2 | 4% |
Other | 3 | 6% |
Unknown | 8 | 15% |