Fig. 1: Graphical overview of the process from sample draw to clinical report using AS-LRS for genetic confirmation of CAH. | European Journal of Human Genetics

Fig. 1: Graphical overview of the process from sample draw to clinical report using AS-LRS for genetic confirmation of CAH.

From: Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

Fig. 1

The figure is made in BioRender (Created in BioRender. Gravholt, C. (2026) https://BioRender.com/ddvzox9). Hands-on time per sample depends on the number of samples being processed in parallel. A batch of 8 samples is processed in 6 h, resulting in an average hands-on time of less than 1 h per sample. Base calling runs in parallel with sequencing, and the analysis pipeline is automatically started once sequencing and base calling are complete. For comparison, Sanger sequencing and MLPA have a hands-on time of approximately 2.5 h/sample.

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