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High-throughput sequencing and rare genetic diseases

Molecular Syndromology (2012) 3(5) 197-203
DOI: 10.1159/000343941
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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. Copyright © 2012 S. Karger AG, Basel.

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APA

Makrythanasis, P., & Antonarakis, S. E. (2012). High-throughput sequencing and rare genetic diseases. In Molecular Syndromology (Vol. 3, pp. 197–203). https://doi.org/10.1159/000343941

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