Research Suggests Poor Coverage of Specific Gene Sets in Exome Sequencing Gives Cause for Concern

The question of the quality of the results provided has become increasingly important as services based on exome sequencing are becoming affordable to patients. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients of clinically actionable incidental ...

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Written by: editor - Sunday, June 1, 2014