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. 2021 May 31;13:96. doi: 10.1186/s13073-021-00898-8

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© The Author(s) 2021

Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 5 — cfDNA tumor fraction guides the optimal selection of profiling assays. a MSK-ACCESS analysis of cfDNA samples with sWGS-estimated z-score <5 and no mutations detected by cf-IMPACT identified mutations at allele fractions below the detection limit of cf-IMPACT. Mutations with potential clinical relevance that were not detected by cf-IMPACT but were identified by MSK-ACCESS are highlighted. Retrospective manual curation of cf-IMPACT data guided by MSK-ACCESS results revealed evidence of a subset of mutations below the detection limit of cf-IMPACT. The dotted lines indicate the two different detection limits of cf-IMPACT: 1% for genotyping of mutation known from tumor profling and 2% for de novo calling of hotspot mutations. The colors of the shapes represent the corresponding OncoKB annotations (dark purple=level 3A, light purple=level 3B, gray=level 4, open = variants not listed on levels 1–4)