Molecular technologies open new clinical genetic vistas
- PMID: 21228396
- DOI: 10.1126/scitranslmed.3002064
Molecular technologies open new clinical genetic vistas
Abstract
Two recent studies published in Science Translational Medicine (Lo et al., 2010; Bell et al., 2011) demonstrate the potential of applying the latest genome-sequencing technologies to preconception carrier testing and noninvasive prenatal genetic diagnosis. These studies shine new light on old ethical, legal, and social concerns associated with genetic technology and deserve careful discussion.
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Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.Sci Transl Med. 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720. Sci Transl Med. 2010. PMID: 21148127
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Carrier testing for severe childhood recessive diseases by next-generation sequencing.Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.
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