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MOESM4 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

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posted on 22.11.2019 by George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis
Additional file 4: Table S3. List of 50 monogenic diseases screened by comprehensive NIPT. Targeted mutations covered are outlined along with detection frequencies in corresponding populations

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