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Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Waddell, Leigh B."

Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Waddell, Leigh B."

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  • Cummings, Beryl B.; Marshall, Jame 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, Kristi; Joshi, Adam Bournazos; Oates, Emily C.; Ghaoui, Roula; Davis, Mark R.; Laing, Nigel G.; Topf, Ana; Genotype-Tissue Expression (GTEx) Consortium; 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.; Guigó Serra, Roderic (American Association for the Advancement of Science (AAAS), 2017)
    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 ...

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