All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

B.H.W. Faas*, D. Westra, S.A. de Munnik, M. van Rij, C. Marcelis, S. Joosten, I. Krapels, V. Vernimmen, M. Heijligers, M.H. Willemsen, N. de Leeuw, T. Rinne, R. Pfundt, S.P. Smeekens, S.P.A. Stegmann, M. Macville, E. Sikkel, A. Coumans, L. Wijnberger, I. DerksJ. van Lent-Albrechts, T. Hofste, R. Timmermans, J. van den End, S.J.C. Stevens, I. Feenstra

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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