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. 2020 Jun 12;6:24. doi: 10.1038/s41523-020-0165-z

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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. 1 — a Design of the BBCAR study. The sample tissues of subjects who subsequently developed breast cancer (cases), and their matched controls, who have not developed breast cancer to date, were studied b A total of 135 cases, matched to 69 controls, were selected for whole-exome sequencing (WES). Case and control samples are matched by age and histology c. an illustration of the workflow to identify somatic mutations in the tissue samples that lack matched germline DNA. To train a model to distinguish germline variants and somatic mutations, previously consented donors were re-contacted (with IRB approval) and saliva specimens were requested for germline DNA sequencing. Orthogonal SNP array genotyping was further performed with 20 samples to compare and validate the performance of somatic mutation identification.