The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

• Published in: American journal of human genetics Vol. 111; no. 5; pp. 841 - 862
• Main Authors: Li, Shenglan, Zhao, Sen, Sinson, Jefferson C., Bajic, Aleksandar, Rosenfeld, Jill A., Neeley, Matthew B., Pena, Mezthly, Worley, Kim C., Burrage, Lindsay C., Weisz-Hubshman, Monika, Ketkar, Shamika, Craigen, William J., Clark, Gary D., Lalani, Seema, Bacino, Carlos A., Machol, Keren, Chao, Hsiao-Tuan, Potocki, Lorraine, Emrick, Lisa, Sheppard, Jennifer, Nguyen, My T.T., Khoramnia, Anahita, Hernandez, Paula Patricia, Nagamani, Sandesh CS, Liu, Zhandong, Eng, Christine M., Lee, Brendan, Liu, Pengfei
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 02.05.2024; Elsevier
• Subjects: Cell Transdifferentiation - genetics; clinically accessible tissue; Female; fibroblast; Fibroblasts - cytology; Fibroblasts - metabolism; genetic diagnosis; Humans; induced neuron; isoform; Male; Nervous System Diseases - diagnosis; Nervous System Diseases - genetics; neurological disorder; Neurons - cytology; Neurons - metabolism; Reproducibility of Results; RNA sequencing; RNA-seq; RNA-Seq - methods; Sequence Analysis, RNA - methods; Transcriptome; transdifferentiation; RNA sequencing; clinically accessible tissue; fibroblast; RNA-seq; transcriptome; transdifferentiation; induced neuron; genetic diagnosis; isoform; neurological disorder

RNA sequencing (RNA-seq) has recently been used in translational research settings to facilitate diagnoses of Mendelian disorders. A significant obstacle for clinical laboratories in adopting RNA-seq is the low or absent expression of a significant number of disease-associated genes/transcripts in c...