RNA sequencing (RNA-seq) is a new tool in the genetic diagnostic laboratory made possible by the advent of low-cost, high-throughput, next-generation sequencing technology. Historically, RNA studies were limited to gene expression using microarray technology for the detection of gene rearrangements and quantification of gene expression for predefined genes. RNA-seq allows detection of qualitative and quantitative changes in RNA expression across the genome in clinical samples and is increasingly being used as an adjunct to diagnostic exome sequencing and whole-genome sequencing.
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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Brendan Lee, MD, PhD, Baylor College of Medicine, One Baylor Plaza, ABBR-R814, Houston, TX 77030 (firstname.lastname@example.org).
Published Online: December 16, 2022. doi:10.1001/jama.2022.22843
Conflict of Interest Disclosures: The authors are employees of Baylor College of Medicine, which is co-owner of Baylor Genetics, a diagnostic genetic testing company. The authors did not receive any personal compensation from Baylor Genetics.
Funding/Support: This work was supported by grants from the National Institutes of Health (U01 HG007709 to Dr Lee, T32 GM007526 to Dr Ketkar, and U54 OD030165 to Dr Burrage). Dr Burrage is also supported by a Career Award for Medical Scientists from the Burroughs Wellcome Fund.
Role of the Funder/Sponsor: The funders had no role in the preparation, review, or approval of the manuscript, or the decision to submit the manuscript for publication.
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Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:
It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.
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