Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

BACKGROUND: Transcriptome sequencing (RNA-seq) improves diagnostic rates in individuals with suspected Mendelian conditions to varying degrees, primarily by directing the prioritization of candidate DNA variants identified on exome or genome sequencing (ES/GS). Here we implemented an RNA-seq–guided...

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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Murdock, David R., Dai, Hongzheng, Burrage, Lindsay C., Rosenfeld, Jill A., Ketkar, Shamika, Müller, Michaela F., Yépez, Vicente A., Gagneur, Julien, Liu, Pengfei, Chen, Shan, Jain, Mahim, Zapata, Gladys, Bacino, Carlos A., Chao, Hsiao-Tuan, Moretti, Paolo, Craigen, William J., Hanchard, Neil A., Lee, Brendan
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2021
Matèries:
Clinical Medicine
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7773386/
https://ncbi.nlm.nih.gov/pubmed/33001864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI141500
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