作者
Hane Lee, Alden Y Huang, Lee-kai Wang, Amanda J Yoon, Genecee Renteria, Ascia Eskin, Rebecca H Signer, Naghmeh Dorrani, Shirley Nieves-Rodriguez, Jijun Wan, Emilie D Douine, Jeremy D Woods, Esteban C Dell’Angelica, Brent L Fogel, Martin G Martin, Manish J Butte, Neil H Parker, Richard T Wang, Perry B Shieh, Derek A Wong, Natalie Gallant, Kathryn E Singh, Y Jane Tavyev Asher, Janet S Sinsheimer, Deborah Krakow, Sandra K Loo, Patrick Allard, Jeanette C Papp, Undiagnosed Diseases Network, Christina GS Palmer, Julian A Martinez-Agosto, Stanley F Nelson
发表日期
2020/3
期刊
Genetics in Medicine
卷号
22
期号
3
页码范围
490-499
出版商
Nature Publishing Group US
简介
Purpose
We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications.
Methods
From 234 subjects referred to the Undiagnosed Diseases Network, University of California–Los Angeles clinical site between July 2014 and August 2018, 113 were enrolled for high likelihood of having rare undiagnosed, suspected genetic conditions despite thorough prior clinical evaluation. Exome or genome sequencing and RNAseq were performed, and RNAseq data was integrated with genome sequencing data for DNA variant interpretation genome-wide.
Results
The molecular diagnostic rate by exome or genome sequencing was 31%. Integration of RNAseq with genome sequencing resulted in an …
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H Lee, AY Huang, L Wang, AJ Yoon, G Renteria… - Genetics in Medicine, 2020