Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA...

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Detaylı Bibliyografya
Yayımlandı:Sci Transl Med
Asıl Yazarlar: Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548421/
https://ncbi.nlm.nih.gov/pubmed/28424332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aal5209
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