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

doi:10.1186/s40246-016-0080-4

Scientific article

Open access

English

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

Published inHuman genomics, vol. 10, no. 1, 24

Publication date2016

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.

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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. doi: 10.1186/s40246-016-0080-4

Article (Published version)

Identifiers

PID : unige:88998
DOI : 10.1186/s40246-016-0080-4
PMID : 27353043

ISSN of the journal1473-9542

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

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