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Fig. 1 | Molecular Cytogenetics

Fig. 1

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

Fig. 1

a Representative subset of identified point mutations in cfmDNA and paternal DNA. In total 613 (shown 259) targeted causative mutations were detected, corresponding to 21 (shown 15/21) monogenic diseases. Color dots represent the Minor Allele Frequency (MAF) at a targeted mutation as per the legend. Grey dots denote a “negative” call (wild type). b Sanger sequencing confirmations of wild-type (I) and parental samples (II and III). A homozygous wild-type sample is shown as normal. Both parents were identified as carriers of a C > T (c.93-21C > T) transition in intron 1 of the HBB gene. In the figure cfmDNA implies cell-free maternal DNA

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Molecular Cytogenetics

ISSN: 1755-8166