High-throughput sequencing and rare genetic diseases

Makrythanasis, Periklis; Antonarakis, Stylianos

doi:10.1159/000343941

Professional article

English

High-throughput sequencing and rare genetic diseases

ContributorsMakrythanasis, Periklis; Antonarakis, Stylianos

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

Publication date2012

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.

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)

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

Article (Published version)

Identifiers

PID : unige:34639
DOI : 10.1159/000343941
PMID : 23293577

Journal ISSN1661-8769

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High-throughput sequencing and rare genetic diseases

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