Pitfalls of clinical exome and gene panel testing: alternative transcripts.


Inova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA. [Email]


Clinical exome and gene panel testing can provide molecular diagnoses for patients with rare Mendelian disorders, but for many patients these tests are nonexplanatory. We investigated whether interrogation of alternative transcripts in known disease genes could provide answers for additional patients.


alternative transcripts,diagnostic yield,epilepsy,exome sequencing,gene panel testing,

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