Article

Detection of Low-Level Parental Somatic Mosaicism for Clinically Relevant Snvs and Indels Identified in a Large Exome Sequencing Dataset

2021-11-01

Abstract excerpt

<title>Abstract</title> <p>Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) <10% is often undetected in clinical settings. To date, only a few studies have attempted to analyze tissue distribution of low-level parental mosaicism in a large clinical exome sequencing (ES) cohort. Methods Using a customized bioinformatics pi...

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Literature Corpus work: 39bf2607-0c69-5173-87dc-5f1385a09fe1
DOI: 10.21203/rs.3.rs-1020672/v1

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