Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods and development of a non-invasive prenatal diagnostic (NIPD) method is of paramount importance to preven...

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Hlavní autoři: Papasavva, Thessalia, van IJcken, Wilfred F J, Kockx, Christel E M, van den Hout, Mirjam C G N, Kountouris, Petros, Kythreotis, Loukas, Kalogirou, Eleni, Grosveld, Frank G, Kleanthous, Marina
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831067/
https://ncbi.nlm.nih.gov/pubmed/23572027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.47
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