ASHG – RNA Sequencing Can Improve Diagnostic Yield of Exome, Genome Tests

From GenomeWeb by Monica Heger

RNA sequencing can help improve the diagnostic rate of exome and genome sequencing-based tests for genetic disease, according to a new study presented at the American Society for Human Genetics’ annual meeting in San Diego this week.

Despite the success of exome and genome sequencing to uncover the molecular cause of genetic disorders, laboratories have reported diagnostic rates ranging from 25 to 50 percent, leaving the majority of cases unsolved, David Murdock, assistant director of the clinical lab at Baylor College of Medicine’s Human Genome Sequencing Center, said in a presentation.

As part of the National Institutes of Health’s Undiagnosed Diseases Network, Murdock said, he and others wanted to see whether RNA sequencing could…

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