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. 2020 Dec 10;10:21759. doi: 10.1038/s41598-020-78942-7

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Massively parallel diagnostic testing by high-throughput sequencing. Workflow of a high-throughput sequencing based diagnostic test. (1) Samples are collected and prepared. (2) Samples are barcoded and amplified. (3) Multiplexed samples are pooled and sequenced using a high-throughput sequencer. 4) Sequencing data is aligned to a set of genes, (5) sample indices are error corrected, (6) counts are computed, and (7) diagnostic results are obtained.