Poor coverage of specific gene sets in exome sequencing gives cause for concern

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Researchers have analyzed 44 exome datasets from four different testing kits and shown that they missed a high proportion of clinically relevant regions. At least one gene in each exome method was missing more than 40 percent of disease-causing genetic variants, and the worst-performing method missed more than 90 percent of such variants. This means that there is a substantial possibility of reporting false negative results, they say.

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Poor coverage of specific gene sets in exome sequencing gives cause for concern

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