Managing incidental and pertinent findings from WGS in the 100,000 Genomes Project
نویسندگان
چکیده
The PHG Foundation is the working name of the Foundation for Genomics and Population Health, an independent charitable organisation (registered in England and Wales, charity No. 1118664 company No. 5823194), which works with partners to achieve better health through the responsible and evidence-based application of biomedical science
منابع مشابه
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.
Professional recommendations for the return of results from exome and whole-genome sequencing (ES/WGS) have been controversial. The lack of clear guidance about whether and, if so, how to return ES/WGS incidental results limits the extent to which individuals and families might benefit from ES/WGS. The perspectives of genetics professionals, particularly those at the forefront of using ES/WGS i...
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Background:To determine the prevalence of incidental Kienböck disease. Methods: A retrospective analysis of 150,912 radiological reports or images obtained over a five year period was performed of 76,174 patients who underwent a radiograph or computed tomography scan which included the wrist, in Edinburgh and Lothian, UK. Results: There were 5 cases of incidental Kienböck disease and 13 cas...
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The 100,000 Genomes Project is a unique, national programme combining research and transformation of clinical care, by undertaking Whole Genome Sequencing (WGS) in patients with rare diseases and cancer. Made possible by technological advances in next generation sequencing1 and falling costs, this project aims to find the genes which cause a patient’s rare disease and identify genetic changes w...
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The UK's 100,000 Genomes Project has the aim of sequencing 100,000 genomes from UK National Health Service (NHS) patients while concomitantly transforming clinical care such that whole genome sequencing becomes routine clinical practice in the UK. Policymakers claim that the project will revolutionize NHS care. We wished to explore the 100,000 Genomes Project, and in particular, the extent to w...
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تاریخ انتشار 2013