Mei Ling Chong, Jefferson Sinson, Nhi Ho, Patricia A Ward, Jill A Rosenfeld, Kristina Macakova, Gladys E Zapata, Becky Maywald, Chunjing Qu, Lindsay Burrage, Seema Lalani, Matthew T. Wheeler, Devon Bonner, Rodrigo Mendez, Jonathan A Bernstein, Carrie Bailey, Dave Viskochil, Undiagnosed Diseases Network, Christine M Eng, Brendan Lee, Pengfei Liu
INTRODUCTION
• Transcriptome RNA-sequencing (TxRNA-seq) has emerged as a powerful complementary tool to genome and exome sequencing for diagnosing patients with rare genetic disorders.
• Here, we present our initial experience with validated TxRNA-seq and highlight its utility in making molecular diagnoses
