Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Volume: 25, Issue: 3, Pages: 305 - 315
Published: Mar 1, 2015
Abstract
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the frequency of such incidental findings in patients of European and African ancestry, we classified potentially actionable pathogenic single-nucleotide variants (SNVs) in all 4300 European- and 2203...
Paper Details
Title
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Published Date
Mar 1, 2015
Volume
25
Issue
3
Pages
305 - 315
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