Evaluations Highlight Limitations of Exome and Whole-Genome Sequencing for Mutation Detection | GenomeWeb

By Julia Karow

Many ongoing studies aim to pinpoint genetic variations that play a role in human disease by sequencing the exomes and genomes of thousands of patients and controls, but several research teams who have recently tested the methods used in these projects caution that they have technical limitations that may leave important genetic variants undiscovered.

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