Article
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Science translational medicine - 19 Apr 2017
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
Abstract excerpt
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 sequencing (RNA-seq)] as a complementary diagnostic tool in a cohort of 50 patients with genetically undiagnosed...
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