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. 2023 Sep 21;9(3):52. doi: 10.3390/ijns9030052

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Equivalent performance of a DBS punch (6 mm) and DNA extracted via EDTA blood tubes. (a) Percentage of autosomal regions with ≥20× coverage for each sample; (b) percentage of exome regions with ≥20× coverage for each sample; (c) normalized coverage across various windows of GC content in the human genome, grouped by sample input type; (d) IGV screenshot of likely pathogenic gene variants discovered in participant with PKU. Tracks from the DNA and DBS inputs are shown. Data from participant 6 (extracted DNA) are shown for comparison (e) Likely pathogenic variants discovered in samples taken from a second participant with PKU. Cartoon representation of the variant location on chromosome 12 and zoomed-in IGV screenshots from the DBS taken directly from the patient. Asterix highlights the presence of the SNV shown in lower panel.

Equivalent performance of a DBS punch (6 mm) and DNA extracted via EDTA blood tubes. (a) Percentage of autosomal regions with ≥20× coverage for each sample; (b) percentage of exome regions with ≥20× coverage for each sample; (c) normalized coverage across various windows of GC content in the human genome, grouped by sample input type; (d) IGV screenshot of likely pathogenic gene variants discovered in participant with PKU. Tracks from the DNA and DBS inputs are shown. Data from participant 6 (extracted DNA) are shown for comparison (e) Likely pathogenic variants discovered in samples taken from a second participant with PKU. Cartoon representation of the variant location on chromosome 12 and zoomed-in IGV screenshots from the DBS taken directly from the patient. Asterix highlights the presence of the SNV shown in lower panel.