Enhanced genetic diagnosis through RNA-seq analysis of transdifferentiated cells

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Pengfei Liu will present on a novel workflow for rare disease diagnostics using RNA-seq. The workflow leverages patient cell transdifferentiation into induced neurons to improve molecular diagnostic yield of neurological genetic disorders. 

Overview of Presentation

  • Transcriptome RNA-seq using clinically accessible tissues does not provide comprehensive characterization of Mendelian disease genes involved in neurological disorders.
  • Cell transdifferentiation can be streamlined into a diagnostic RNA-seq workflow.
  • Induced neuron RNA-seq increases molecular diagnostic yield by activating neurological disease-associated genes and neuron-specific isoforms


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Pengfei Liu, PhD, FACMGG

Associate Professor

Baylor College of Medicine

Dr. Pengfei Liu is Associate Professor (tenured) at the Department of Molecular and Human Genetics at Baylor College of Medicine, as well as the CLIA Lab Director of the Medical Genetics and Multiomics Laboratory at Baylor. He is also the Director of the Baylor ACGME/ABMGG Laboratory Genetics and Genomics (LGG) Fellowship Program. Dr. Liu is a board-certified PhD clinical geneticist with a primary research interest in translating new technologies into clinical testing to advance the diagnostics and therapy of rare diseases. His clinical work has provided key evidence to recognize the necessity and importance of clinical reanalysis of diagnostic exome data. Dr. Liu has led the launch of clinical whole genome sequencing at Baylor Genetics as well as the clinical RNA-seq for the Undiagnosed Diseases Network (UDN). He has received multiple honors and awards, including the Michael Watson’s Genome Medicine Innovation Award from the ACMG, the Genomic Innovator Award from the NHGRI, and the Cotterman Award from the ASHG. 

Alyson Barnes, PhD (Moderator)

Assistant Editor

American Journal of Human Genetics


June Journal Club
06/12/2024 at 12:00 PM (EDT)  |  Recorded On: 06/12/2024  |  30 minutes  |   Closed captions available
06/12/2024 at 12:00 PM (EDT)  |  Recorded On: 06/12/2024  |  30 minutes  |   Closed captions available June Journal Club - AJHG