Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Article Article scientifique Article Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders eng 2016 author Fokstuen Siv 133715 author Makrythanasis Periklis 638085 author Hammar Bouveret Eva 86178 author Guipponi Michel 118157 author Ranza Emmanuelle Nathalie 517664 author Varvagiannis Konstantinos 781131 author Santoni Federico 681638 author Albarca-Aguilera M author Poleggi Marco Emilio 808626 author Couchepin Florence 519313 author Brockmann Céline Denise 134627 author Mauron Alex 22329 author Hurst Samia 0000-0002-1980-5226 84281 author Moret Céline 528182 author Gehrig Corinne 86500 author Vannier Anne 751929 author Bevillard Jeremy 737205 author Araud Tanguy 629127 author Gimelli Stefania 663673 author Stathaki Elissavet 691247 author Giacobino Ariane 28204 author Bottani Armand 513397 author Sloan-Bena F author Sizonenko L D'Amato author Mostafavi Maryam 740172 author Hamamy H author Nouspikel Thierry 24145 author Blouin Jean-Louis 513663 author Antonarakis Stylianos 22813 24 10.1186/s40246-016-0080-4 27353043 1473-9542 In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary "Genome Clinic Task Force" at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator. Dewey 576.5 Dewey 618 Dewey 174.957 135 Département de médecine génétique et développement 21D 58 Département de pédiatrie, gynécologie et obstétrique 223 69 Institut Ethique Histoire Humanités 22A6 false 453 Ethique biomédicale 783 580 Groupe Giacobino Ariane (génétique) 923 196 Pathologie Moléculaire de la Trisomie 21 et le Génome Humain 248 Human genomics 10 1 8b05db29-204c-4013-93a0-a41f0dbc7dee Article (Published version) Public art_10.1186_s40246-016-0080-4.pdf 1167427 application/pdf openAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique Faculté de médecine / Section de médecine clinique / Département de santé et médecine communautaires / Institut Ethique Histoire Humanités

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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics			2016	755	365

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Poleggi, Marco Emilio