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Fig. 1 | Genome Biology

Fig. 1

From: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Fig. 1

Coverage and variant properties of the panel and patient cohort. a The cumulative distribution read coverage across the targeted regions of the HaloPlex panel for 16 evaluation samples. The vertical axis shows the percentage of bases covered with at least the level of coverage specified by the horizontal axis. Although the median coverage is acceptable for all samples, it is notable that 10% of bases are covered at less than 25×, while another 10% of bases are covered at more than 280×. b Coverage depth uniformity of HaloPlex compared to whole genome sequencing (WGS). The cumulative coverage distribution is shown for three samples sequenced by both technologies. HaloPlex is notably less uniform, having a flatter distribution than WGS. c Receiver-operator characteristic (ROC) curve showing sensitivity versus false positive rate (1 − precision) for detecting single nucleotide variants and INDELs smaller than 10 bp, compared to high confidence calls for samples NA12878 and NA12877. Call sets were obtained from the Illumina Platinum Genomes project. A sensitivity of 97 and 95%, respectively, is achieved for a false positive rate smaller than approximately 2% in both cases

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