MOESM5 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.10730873.v1

13039_2019_459_MOESM5_ESM.docx (159.85 kB)

MOESM5 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 5: Figure S2. Flowchart illustrating the bioinformatics analysis pipeline for a typical sequencing run consisting of plasma samples. The same pipeline applies for paternal samples with the last step being performed for variant calling (monogenic diseases) only.