Article

Improving Accuracy of Somatic Mutation Profiling in Large Epidemiologic Studies: Addressing Cases without Matched Normal Samples

2024-10-31

Abstract excerpt

Ideally, detection of somatic mutations in a tumor is accomplished using a patient-matched sample of normal cells as the benchmark. In this way somatic mutations can be distinguished from rare germline mutations. In large retrospective studies, archival tissue collection can pose challenges in obtaining samples of normal DNA. In this article we propose a protocol that improves somatic mutation analysis in the abse...

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Literature Corpus work: b838a8e0-59ef-59f1-bb74-91d701844c9b
DOI: 10.1101/2024.10.28.617052

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