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Clinical whole-exome sequencing: are we there yet?

Paldeep Singh Atwal1, Marie-Louise Brennan1, Rachel Cox1

  • 1Division of Medical Genetics, Stanford University Medical Center, Stanford, California, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|February 15, 2014
PubMed
Summary

Clinical whole-exome sequencing (WES) shows diagnostic value but faces challenges. Current success rates may be lower than reported, with issues in turnaround times, insurance coverage, and result interpretation impacting adoption.

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