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High-throughput sequencing and rare genetic diseases

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Published in Molecular Syndromology. 2012, vol. 3, no. 5, p. 197-203
Abstract High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.
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PMID: 23293577
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Article (Published version) (179 Kb) - public document Free access
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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MAKRYTHANASIS, Periklis, ANTONARAKIS, Stylianos. High-throughput sequencing and rare genetic diseases. In: Molecular Syndromology, 2012, vol. 3, n° 5, p. 197-203. https://archive-ouverte.unige.ch/unige:34639

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Deposited on : 2014-03-07

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