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

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...

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Bibliographic Details
Published in:	American journal of human genetics Vol. 111; no. 5; p. 841
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 02.05.2024
Subjects:	Cell Transdifferentiation - genetics Female Fibroblasts - cytology Fibroblasts - metabolism Humans Male Nervous System Diseases - diagnosis Nervous System Diseases - genetics Neurons - cytology Neurons - metabolism Reproducibility of Results RNA-Seq - methods Sequence Analysis, RNA - methods Transcriptome RNA sequencing clinically accessible tissue fibroblast RNA-seq transcriptome transdifferentiation genetic diagnosis induced neuron isoform neurological disorder
ISSN:	1537-6605, 1537-6605
Online Access:	Get more information
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