$20.00
Want a discount? Become a member by purchasing a membership and you could save up to $20.00!
You must log in or register before you can add this product to your cart.
Description
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
Related products
-
AnVIL in the Classroom: Cloud-scale educational resources for modern genomics
$20.00 View Product -
Workshop: An overview of public resources for gene-disease association and sequence and copy number variant interpretation
$55.00 View Product -
Workshop: Satisfying NIH data sharing and management requirements with Terra and AnVIL
$55.00 View Product -
Workshop: Making All of Us for all of us: Exploring how the All of Us genomic dataset has grown
$55.00 View Product