MOESM5 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

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.