@misc{indiciaef56159d4874b, title = {Improving genetic diagnosis in Mendelian disease with transcriptome sequencing}, author = {Beryl B Cummings and Jamie L Marshall and Taru Tukiainen and Monkol Lek and Sandra Donkervoort and A. Reghan Foley and Veronique Bolduc and Leigh Waddell and Sarah Sandaradura and Gina L O'Grady and Elicia Estrella and Hemakumar Mutra Reddy and Fengmei Zhao and Ben Weisburd and Konrad Karczewski and Anne O'Donnell-Luria and Daniel Birnbaum and Anna Sarkozy and Ying Hu and Hernan Gonorazky and Kristl Claeys and Himanshu Joshi and Adam Bournazos and Emily Oates and Roula Ghaoui and Mark Davis and Nigel G Laing and Ana Topf and GTEx Consortium and Alan Beggs and Peter B Kang and Kathryn N North and Volker Straub and James Dowling and Francesco Muntoni and Nigel F Clarke and Sandra T Cooper and Carsten G Bonnemann and Daniel G MacArthur}, year = {2016}, doi = {10.1101/074153}, url = {https://www.biorxiv.org/content/10.1101/074153v1}, note = {Source identifier: 10.1101/074153} }