A systematic approach to assessing the clinical significance of genetic variants.
作者： H Duzkale , J Shen , H McLaughlin , A Alfares , MA Kelly
DOI: 10.1111/CGE.12257
关键词: Population 、 Data science 、 Experimental data 、 Disease 、 Bioinformatics 、 Process (engineering) 、 Risk assessment 、 Genetic testing 、 Biology 、 Decision tree 、 Test (assessment)
摘要: … We have iteratively developed a framework through clinical assessments of … clinical variant assessment for variants being returned after disease-targeted testing. When assessments …
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