Utility and Limitations of Exome Sequencing As a Genetic Diagnostic Tool for Conditions Associated with Pediatric Sudden Cardiac Arrest/sudden Cardiac Death Mindy H. Li , Jenica L. Abrudan , Matthew C. Dulik , Ariella Sasson , Joshua Brunton , Vijayakumar Jayaraman , Noreen Dugan , Danielle Haley , Ramakrishnan Rajagopalan , Sawona Biswas , Mahdi Sarmady , Elizabeth T. DeChene , Matthew A. Deardorff , Alisha Wilkens , Sarah E. Noon , Maria I. Scarano , Avni B. Santani , Peter S. White , Jeffrey Pennington , Laura K. Conlin , Nancy B. Spinner , Ian D. Krantz , Victoria L. Vetter Human Genomics（2015）
关键词
Exome Sequencing, Sequencing Depth, Genomic Position, Pathogenic Variant, Human Gene Mutation Database
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