Professional article
Open access

High-throughput sequencing and rare genetic diseases

Published inMolecular syndromology, vol. 3, no. 5, p. 197-203
Publication date2012

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.

Citation (ISO format)
MAKRYTHANASIS, Periklis, ANTONARAKIS, Stylianos. High-throughput sequencing and rare genetic diseases. In: Molecular syndromology, 2012, vol. 3, n° 5, p. 197–203. doi: 10.1159/000343941
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Article (Published version)
ISSN of the journal1661-8769

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