Fig. 1From: Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasiaEstablishment of amplicon-based targeted sequencing (targeted-seq) for skeletal dysplasia. A The workflow for running a 5-gene panel (87 mutation hotspots) to detect skeletal dysplasia. B Two bioinformatics pipelines developed for analyzing sequencing reads on Ion Proton and NextSeq550. C, D The ratio of read count of each amplicon to total reads count was plotted across 51 amplicons. The read depth was extracted from BAM file of (C) Ion Proton (n = 17) or (D) NextSeq550 (n = 3). The gene name and amplicon number are indicated (X-axis). P-values were calculated by two-way ANOVA across amplicons and samplesBack to article page