دورية أكاديمية
Towards an evidence-based process for the clinical interpretation of copy number variation.
| العنوان: | Towards an evidence-based process for the clinical interpretation of copy number variation. |
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| المؤلفون: | Riggs, ER, Church, DM, Hanson, K, Horner, VL, Kaminsky, EB, Kuhn, RM, Wain, KE, Williams, ES, Aradhya, S, Kearney, HM, Ledbetter, DH, South, ST, Thorland, EC, Martin, CL |
| المصدر: | Clinical Genetics; May2012, Vol. 81 Issue 5, p403-412, 10p, 2 Diagrams |
| مصطلحات موضوعية: | EVIDENCE-based medicine, MEDICAL decision making, GENETIC testing, MICROARRAY technology, GENOMES, PHENOTYPES, MEDICAL genetics |
| مستخلص: | Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Towards an evidence-based process for the clinical interpretation of copy number variation. The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To address these issues, the International Standards for Cytogenomic Arrays Consortium has established an EBR Work Group charged with building a framework to systematically assess the potential clinical relevance of CNVs throughout the genome. This group has developed a rating system enumerating the evidence supporting or refuting dosage sensitivity for individual genes and regions that considers the following criteria: number of causative mutations reported; patterns of inheritance; consistency of phenotype; evidence from large-scale case-control studies; mutational mechanisms; data from public genome variation databases; and expert consensus opinion. The system is designed to be dynamic in nature, with regions being reevaluated periodically to incorporate emerging evidence. The evidence collected will be displayed within a publically available database, and can be used in part to inform clinical laboratory CNV interpretations as well as to guide array design. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: | Complementary Index |
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