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

Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; Ranza, Emmanuelle Nathalie; Varvagiannis, Konstantinos; Santoni, Federico; Albarca-Aguilera, M; Poleggi, Marco Emilio; Couchepin, Florence; Brockmann, Céline Denise; Mauron, Alex; Hurst, Samia; Moret, Céline; Gehrig, Corinne; Vannier, Anne; Bevillard, Jeremy; Araud, Tanguy; Gimelli, Stefania; Stathaki, Elissavet; Giacobino, Ariane; Bottani, Armand; Sloan-Bena, F; Sizonenko, L D'Amato; Mostafavi, Maryam; Hamamy, H; Nouspikel, Thierry; Blouin, Jean-Louis; Antonarakis, Stylianos

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Title		Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Authors		Fokstuen, Siv Makrythanasis, Periklis Hammar Bouveret, Eva Guipponi, Michel Ranza, Emmanuelle Nathalie Varvagiannis, Konstantinos Santoni, Federico Albarca-Aguilera, M Poleggi, Marco Emilio Couchepin, Florence Brockmann, Céline Denise Mauron, Alex Hurst, Samia Moret, Céline Gehrig, Corinne Vannier, Anne Bevillard, Jeremy Araud, Tanguy Gimelli, Stefania Stathaki, Elissavet Giacobino, Ariane Bottani, Armand Sloan-Bena, F Sizonenko, L D'Amato Mostafavi, Maryam Hamamy, H Nouspikel, Thierry Blouin, Jean-Louis Antonarakis, Stylianos show all authors [1 - 29]
Published in		Human Genomics. 2016, vol. 10, no. 1, p. 24
Abstract		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.
Identifiers		DOI: 10.1186/s40246-016-0080-4 PMID: 27353043
Full text		Article (Published version) (1.1 MB) - Free access
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de pédiatrie Faculté de médecine / Section de médecine clinique / Département de santé et de médecine communautaires / Institut Ethique Histoire Humanités
Research groups		Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248) Groupe Giacobino Ariane (génétique) (923) Ethique biomédicale (783)
Citation (ISO format)		FOKSTUEN, Siv et al. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. In: Human Genomics, 2016, vol. 10, n° 1, p. 24. https://archive-ouverte.unige.ch/unige:88998