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Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study

20 Sept 2023

Abstract excerpt

Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean...

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PMID: 37728764
DOI: 10.1007/s00439-023-02592-8

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