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. 2020 Jul 6;5:29. doi: 10.1038/s41525-020-0137-0

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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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 2 — Patients with or without previous clinical testing were consented to harmonized research protocols. Patients were offered standardized sample collection mechanisms and most patients were dual consented to the Precision Link Biobank to support the collection of additional leftover clinical samples. Patient samples were CLIA sequenced by our sequencing provider (GeneDx) and data was returned to AWS where it was loaded into CRDC infrastructure for analysis. Once research teams identified a candidate variant, analysts worked with clinicians to order the clinical confirmation from the sequencing provider. Clinical confirmations were returned to BCH, added to the patient’s medical record, and communicated to the patient.