Concepedia

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

Thessalia Papasavva, Wilfred F. J. van IJcken, Christel Kockx, Mirjam C. G. N. van den Hout, Petros Kountouris, Loukas Kythreotis, Eleni Ι. Kalogirou, Frank Grosveld, Marina Kleanthous

European Journal of Human Genetics · 2013 · 55 citations · 33 references

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33

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Presence of fetal DNA in maternal plasma and serum

Yuk Ming Dennis Lo, Noemi Corbetta, P. Chamberlain et al. · The Lancet · 1997 · 3.1K citations

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Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis

Yuk Ming Dennis Lo, Mark Tein, Tze Kin Lau et al. · The American Journal of Human Genetics · 1998 · 1.7K citations

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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

H. Christina Fan, Yair J. Blumenfeld, Usha Chitkara et al. · Proceedings of the National Academy of Sciences · 2008 · 1.1K citations · Full text

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Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

Yuk Ming Dennis Lo, K.C. Allen Chan, Hao Sun et al. · Science Translational Medicine · 2010 · 1.1K citations

, , +17