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. 2012 Nov;3(5):197-203.
doi: 10.1159/000343941. Epub 2012 Nov 9.

High-throughput sequencing and rare genetic diseases

P Makrythanasis  1 , S E Antonarakis
Affiliations

High-throughput sequencing and rare genetic diseases

P Makrythanasis et al. Mol Syndromol. 2012 Nov.

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.

Keywords: Diagnosis; Ethical aspects; Genetic disorders; Next-generation sequencing; Prenatal diagnosis.

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Figures

Fig. 1
Fig. 1
High-throughput sequencing is slowly being introduced as an additional genetic diagnostic test and in the future it will replace most if not all the other genetic tests.
See this image and copyright information in PMC

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