MOESM2 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Koumbaris, George; Achilleos, Achilleas; Nicolaou, Michalis; Loizides, Charalambos; Tsangaras, Kyriakos; Kypri, Elena; Mina, Petros; Sismani, Carolina; Velissariou, Voula; Christopoulou, Georgia; Constantoulakis, Pantelis; Manolakos, Emmanouil; Papoulidis, Ioannis; Stambouli, Danai; Ioannides, Marios; Patsalis, Philippos

doi:10.6084/m9.figshare.10730840.v1

13039_2019_459_MOESM2_ESM.docx (19.18 kB)

MOESM2 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

journal contribution

posted on 2019-11-22, 05:59 authored 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 2: Table S1. List of 50 monogenic disorders included in the targeted disease panel.