title: High-throughput sequencing and rare genetic diseases.
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.
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
authors.forename: P
authors.initials: P
authors.lastname: Makrythanasis
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
keywords: Diagnosis; Ethical aspects; Genetic disorders; Next-generation sequencing; Prenatal diagnosis